| - GRCh37:
- Chr7:92136310
- GRCh38:
- Chr7:92506996
| PEX1 | K393*, K601* | Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B | Likely pathogenic
(Jan 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92135586
- GRCh38:
- Chr7:92506272
| PEX1 | R418*, R626* | Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B | Likely pathogenic
(Jan 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92147113
- GRCh38:
- Chr7:92517799
| PEX1 | S239*, S31* | Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B | Likely pathogenic
(Jan 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92132368-92132369
- GRCh38:
- Chr7:92503054-92503055
| PEX1 | Q530fs, Q681fs, Q738fs | Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B | Likely pathogenic
(Dec 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92141014
- GRCh38:
- Chr7:92511700
| PEX1 | K247*, K455* | Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B | Likely pathogenic
(Dec 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92140353
- GRCh38:
- Chr7:92511039
| PEX1 | E290*, E498* | Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B | Likely pathogenic
(Dec 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92120763-92120766
- GRCh38:
- Chr7:92491449-92491452
| GATAD1, PEX1 | F1029fs, F1086fs, F878fs | Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B | Likely pathogenic
(Dec 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92120713
- GRCh38:
- Chr7:92491399
| GATAD1, PEX1 | L1047*, L1104*, L896* | Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) | Likely pathogenic
(Dec 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92135645
- GRCh38:
- Chr7:92506331
| PEX1 | S398*, S606* | Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) | Likely pathogenic
(Dec 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92147318-92147319
- GRCh38:
- Chr7:92518004-92518005
| PEX1 | T171fs | Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) | Likely pathogenic
(Dec 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92151484
- GRCh38:
- Chr7:92522170
| PEX1 | Q69* | Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) | Likely pathogenic
(Mar 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92143200
- GRCh38:
- Chr7:92513886
| PEX1 | I233fs, I441fs | Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) | Likely pathogenic
(Dec 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92132382
- GRCh38:
- Chr7:92503068
| PEX1 | C525*, C676*, C733* | Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) | Likely pathogenic
(Dec 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92146655
- GRCh38:
- Chr7:92517341
| PEX1 | E184*, E392* | Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) | Likely pathogenic
(Dec 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92120726
- GRCh38:
- Chr7:92491412
| GATAD1, PEX1 | G1043*, G1100*, G892* | Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) | Likely pathogenic
(Dec 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92147071-92147072
- GRCh38:
- Chr7:92517757-92517758
| PEX1 | F253fs, F45fs | Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) | Likely pathogenic
(Dec 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92138702
- GRCh38:
- Chr7:92509388
| PEX1 | E330fs, E538fs | Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) | Likely pathogenic
(Dec 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92123877-92123878
- GRCh38:
- Chr7:92494563-92494564
| GATAD1, PEX1 | H743fs, H894fs, H951fs | Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) | Likely pathogenic
(May 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92126039-92126040
- GRCh38:
- Chr7:92496725-92496726
| PEX1 | D716fs, D867fs, D924fs | Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) | Likely pathogenic
(May 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92135646-92135647
- GRCh38:
- Chr7:92506332-92506333
| PEX1 | S398fs, S606fs | Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) | Likely pathogenic
(May 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92136414-92136415
- GRCh38:
- Chr7:92507100-92507101
| PEX1 | S358fs, S566fs | Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) | Likely pathogenic
(May 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92157683-92157684
- GRCh38:
- Chr7:92528369-92528370
| PEX1 | N23fs | Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) | Likely pathogenic
(May 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92147170
- GRCh38:
- Chr7:92517856
| PEX1 | S12*, S220* | Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) | Likely pathogenic
(Mar 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92123840
- GRCh38:
- Chr7:92494526
| GATAD1, PEX1 | Q755*, Q906*, Q963* | Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) | Likely pathogenic
(Apr 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92120716
- GRCh38:
- Chr7:92491402
| GATAD1, PEX1 | G1046fs, G1103fs, G895fs | Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) | Likely pathogenic
(Apr 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92151513-92151514
- GRCh38:
- Chr7:92522199-92522200
| PEX1 | S59fs | Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) | Likely pathogenic
(Apr 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92147199-92147200
- GRCh38:
- Chr7:92517885-92517886
| PEX1 | M210fs, M2fs | Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) | Likely pathogenic
(Mar 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92147316-92147317
- GRCh38:
- Chr7:92518002-92518003
| PEX1 | | Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) | Likely pathogenic
(Mar 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92122430-92122431
- GRCh38:
- Chr7:92493116-92493117
| GATAD1, PEX1 | E1015fs, E807fs, E958fs | Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) | Likely pathogenic
(Mar 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92135567
- GRCh38:
- Chr7:92506253
| PEX1 | L424fs, L632fs | Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) | Likely pathogenic
(Mar 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92123634
- GRCh38:
- Chr7:92494320
| GATAD1, PEX1 | K1001fs, K793fs, K944fs | Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) | Likely pathogenic
(Mar 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92140292-92140293
- GRCh38:
- Chr7:92510978-92510979
| PEX1 | L310fs, L518fs | Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) | Likely pathogenic
(Mar 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92135622
- GRCh38:
- Chr7:92506308
| PEX1 | K406*, K614* | Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) | Likely pathogenic
(Mar 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92151436
- GRCh38:
- Chr7:92522122
| PEX1 | G85* | Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) | Likely pathogenic
(Mar 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92147296-92147297
- GRCh38:
- Chr7:92517982-92517983
| PEX1 | Q178fs | Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) | Likely pathogenic
(Mar 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92147333
- GRCh38:
- Chr7:92518019
| PEX1 | Y166fs | Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) | Likely pathogenic
(Mar 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92131387
- GRCh38:
- Chr7:92502073
| PEX1 | R537*, R688*, R745* | Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) | Likely pathogenic
(Mar 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92120754-92120755
- GRCh38:
- Chr7:92491440-92491441
| GATAD1, PEX1 | S1034fs, S1091fs, S883fs | Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) | Likely pathogenic
(Mar 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92119219
- GRCh38:
- Chr7:92489905
| GATAD1, PEX1 | Q1092*, Q1149*, Q941* | Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) | Likely pathogenic
(Mar 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92136341-92136342
- GRCh38:
- Chr7:92507027-92507028
| PEX1 | L382fs, L590fs | Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) | Likely pathogenic
(Feb 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92131265-92131267
- GRCh38:
- Chr7:92501951-92501953
| PEX1 | T577fs, T728fs, T785fs | Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) | Likely pathogenic
(Feb 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92132438-92132439
- GRCh38:
- Chr7:92503124-92503125
| PEX1 | Q507fs, Q658fs, Q715fs | Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) | Likely pathogenic
(Feb 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92135639-92135640
- GRCh38:
- Chr7:92506325-92506326
| PEX1 | L400fs, L608fs | Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) | Likely pathogenic
(Feb 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92120602
- GRCh38:
- Chr7:92491288
| GATAD1, PEX1 | G1084fs, G1141fs, G933fs | Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) | Likely pathogenic
(Feb 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92141002-92141003
- GRCh38:
- Chr7:92511688-92511689
| PEX1 | S250fs, S458fs | Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) | Likely pathogenic
(Feb 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92147023-92147024
- GRCh38:
- Chr7:92517709-92517710
| PEX1 | E269fs, E61fs | Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) | Likely pathogenic
(Feb 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92146730
- GRCh38:
- Chr7:92517416
| PEX1 | Q159*, Q367* | Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) | Likely pathogenic
(Jan 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92123704-92123705
- GRCh38:
- Chr7:92494390-92494391
| GATAD1, PEX1 | Y770fs, Y921fs, Y978fs | Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) | Likely pathogenic
(Jan 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92131339-92131340
- GRCh38:
- Chr7:92502025-92502026
| PEX1 | I553fs, I704fs, I761fs | Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) | Likely pathogenic
(Nov 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92140908-92140909
- GRCh38:
- Chr7:92511594-92511595
| PEX1 | L282fs, L490fs | Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) | Likely pathogenic
(Jan 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92148308
- GRCh38:
- Chr7:92518994
| PEX1 | | Zellweger spectrum disorders, Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger),
Heimler syndrome 1 | Likely pathogenic
(Apr 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:92119042
- GRCh38:
- Chr7:92489728
| GATAD1, PEX1 | R1208fs, R1000fs, R1151fs | Zellweger spectrum disorders, Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger),
Heimler syndrome 1 | Pathogenic/Likely pathogenic
(Dec 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:92157670-92157694
- GRCh38:
- Chr7:92528356-92528380
| PEX1 | V19fs | Zellweger spectrum disorders, Heimler syndrome 1, Peroxisome biogenesis disorder 1A (Zellweger),
Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder | Pathogenic/Likely pathogenic
(Dec 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:92120803
- GRCh38:
- Chr7:92491489
| PEX1, GATAD1 | S1017I, S1074I, S866I | Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger), Heimler syndrome 1
| Uncertain significance
(Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92136395
- GRCh38:
- Chr7:92507081
| PEX1 | H364Q, H572Q | Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger), Heimler syndrome 1
| Uncertain significance
(Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92132482
- GRCh38:
- Chr7:92503168
| PEX1 | I492T, I643T, I700T | Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger), Heimler syndrome 1
| Uncertain significance
(Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92119092
- GRCh38:
- Chr7:92489778
| GATAD1, PEX1 | E1134A, E1191A, E983A | Peroxisome biogenesis disorder 1A (Zellweger), Heimler syndrome 1, Peroxisome biogenesis disorder 1B
| Uncertain significance
(Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92146902
- GRCh38:
- Chr7:92517588
| PEX1 | H101Q, H309Q | Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger), Heimler syndrome 1
| Uncertain significance
(Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92136423
- GRCh38:
- Chr7:92507109
| PEX1 | G355D, G563D | Peroxisome biogenesis disorder 1A (Zellweger), Heimler syndrome 1, Peroxisome biogenesis disorder 1B
| Uncertain significance
(Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92129061
- GRCh38:
- Chr7:92499747
| PEX1 | G684E, G835E, G892E | Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger), Heimler syndrome 1,
Zellweger spectrum disorders | Uncertain significance
(May 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:92122308
- GRCh38:
- Chr7:92492994
| GATAD1, PEX1 | | Heimler syndrome 1, Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders,
Peroxisome biogenesis disorder 1B | Conflicting interpretations of pathogenicity
(Oct 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:92129162
- GRCh38:
- Chr7:92499848
| PEX1 | | Heimler syndrome 1, Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger),
Zellweger spectrum disorders | Benign/Likely benign
(Feb 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:92147108
- GRCh38:
- Chr7:92517794
| PEX1 | S241P, S33P | Peroxisome biogenesis disorder 1A (Zellweger), Heimler syndrome 1, Peroxisome biogenesis disorder 1B,
Zellweger spectrum disorders | Conflicting interpretations of pathogenicity
(Aug 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:92132381
- GRCh38:
- Chr7:92503067
| PEX1 | V734I, V526I, V677I | Zellweger spectrum disorders, Peroxisome biogenesis disorder 1A (Zellweger), Heimler syndrome 1,
Peroxisome biogenesis disorder 1B | Uncertain significance
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:92123797
- GRCh38:
- Chr7:92494483
| GATAD1, PEX1 | | Zellweger spectrum disorders, Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger),
Heimler syndrome 1 | Uncertain significance
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:92134230
- GRCh38:
- Chr7:92504916
| PEX1 | | Heimler syndrome 1, Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger),
Peroxisome biogenesis disorder 1A (Zellweger) | Uncertain significance
(Jul 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:92134060
- GRCh38:
- Chr7:92504746
| PEX1 | Q478R, Q686R | Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1A (Zellweger), Heimler syndrome 1,
Peroxisome biogenesis disorder 1B, Inborn genetic diseases, Zellweger spectrum disorders
| Uncertain significance
(Apr 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:92151560
- GRCh38:
- Chr7:92522246
| PEX1 | | Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B, Zellweger spectrum disorders
| Pathogenic/Likely pathogenic
(May 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:92151509
- GRCh38:
- Chr7:92522195
| PEX1 | W60* | Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr7:92147256
- GRCh38:
- Chr7:92517942
| PEX1 | A192fs | Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr7:92146703
- GRCh38:
- Chr7:92517389
| PEX1 | E168fs, E376fs | Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B, Zellweger spectrum disorders
| Pathogenic
(Oct 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:92143181
- GRCh38:
- Chr7:92513867
| PEX1 | L239*, L447* | Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr7:92132492-92132496
- GRCh38:
- Chr7:92503178-92503182
| PEX1 | M487fs, M638fs, M695fs | Peroxisome biogenesis disorder 1A (Zellweger), Heimler syndrome 1, Peroxisome biogenesis disorder 1B,
Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B, Zellweger spectrum disorders
| Pathogenic
(Mar 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:92119091
- GRCh38:
- Chr7:92489777
| GATAD1, PEX1 | E1134fs, E1191fs, E983fs | Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr7:92147524
- GRCh38:
- Chr7:92518210
| PEX1 | R135* | Zellweger spectrum disorders, Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B,
not provided | Pathogenic
(Jan 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:92147017
- GRCh38:
- Chr7:92517703
| PEX1 | N271S, N63S | Zellweger spectrum disorders, not provided, Peroxisome biogenesis disorder 1A (Zellweger),
Heimler syndrome 1, Peroxisome biogenesis disorder 1B | Benign/Likely benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:92151542
- GRCh38:
- Chr7:92522228
| PEX1 | | Zellweger spectrum disorders, Heimler syndrome 1, Peroxisome biogenesis disorder 1B,
Peroxisome biogenesis disorder 1A (Zellweger) | Conflicting interpretations of pathogenicity
(Oct 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:92126021
- GRCh38:
- Chr7:92496707
| PEX1 | | Peroxisome biogenesis disorder 1B | Uncertain significance
(Apr 27, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92122359
- GRCh38:
- Chr7:92493045
| PEX1, GATAD1 | T831fs, T982fs, T1039fs | Zellweger spectrum disorders, Retinal dystrophy, Peroxisome biogenesis disorder 1A (Zellweger),
Peroxisome biogenesis disorder 1B, not provided | Pathogenic/Likely pathogenic
(Mar 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:92123851
- GRCh38:
- Chr7:92494537
| GATAD1, PEX1 | R959P, R751P, R902P | Heimler syndrome 1, Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B
| Uncertain significance
(Aug 7, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92151415
- GRCh38:
- Chr7:92522101
| PEX1 | | Peroxisome biogenesis disorder 1B, Heimler syndrome 1, Peroxisome biogenesis disorder 1A (Zellweger),
Zellweger spectrum disorders, Peroxisome biogenesis disorder 1A (Zellweger) | Likely pathogenic
(May 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:92147571
- GRCh38:
- Chr7:92518257
| PEX1 | | Peroxisome biogenesis disorder 1B, Heimler syndrome 1, Peroxisome biogenesis disorder 1A (Zellweger),
Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders | Likely pathogenic
(Sep 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:92122397
- GRCh38:
- Chr7:92493083
| GATAD1, PEX1 | L1026P, L969P, L818P | not provided, Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders,
Peroxisome biogenesis disorder 1B | Conflicting interpretations of pathogenicity
(Jun 22, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:92122436
- GRCh38:
- Chr7:92493122
| GATAD1, PEX1 | R1013H, R956H, R805H | Zellweger spectrum disorders, Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B,
Peroxisome biogenesis disorder 1A (Zellweger) | Conflicting interpretations of pathogenicity
(Oct 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:92118618
- GRCh38:
- Chr7:92489304
| GATAD1, PEX1 | N1044K, N1252K, N1195K | Zellweger spectrum disorders, Peroxisome biogenesis disorder 1A (Zellweger), Heimler syndrome 1,
Peroxisome biogenesis disorder 1B | Conflicting interpretations of pathogenicity
(Oct 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:92120741
- GRCh38:
- Chr7:92491427
| GATAD1, PEX1 | D1095N, D887N, D1038N | Peroxisome biogenesis disorder 1A (Zellweger), Heimler syndrome 1, Peroxisome biogenesis disorder 1B,
Peroxisome biogenesis disorder due to PEX1 defect, Zellweger spectrum disorders, not provided
| Conflicting interpretations of pathogenicity
(Oct 11, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:92151435
- GRCh38:
- Chr7:92522121
| PEX1 | G85E | Peroxisome biogenesis disorder 1A (Zellweger), Heimler syndrome 1, Peroxisome biogenesis disorder 1B,
Heimler syndrome 1, not provided, Zellweger spectrum disorders
| Uncertain significance
(Aug 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:92143272
- GRCh38:
- Chr7:92513958
| PEX1 | D417N, D209N | Zellweger spectrum disorders, Heimler syndrome 1, Peroxisome biogenesis disorder 1A (Zellweger),
Peroxisome biogenesis disorder 1B, Inborn genetic diseases, not provided
| Uncertain significance
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:92123645
- GRCh38:
- Chr7:92494331
| GATAD1, PEX1 | R998*, R941*, R790* | Peroxisome biogenesis disorder, Zellweger spectrum disorders, not provided
| Pathogenic/Likely pathogenic
(Mar 17, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:92140266
- GRCh38:
- Chr7:92510952
| PEX1 | T527A, T319A | Zellweger spectrum disorders, not specified, Peroxisome biogenesis disorder 1B,
Heimler syndrome 1, not provided, Peroxisome biogenesis disorder 1A (Zellweger)
| Conflicting interpretations of pathogenicity
(Jan 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:92123884
- GRCh38:
- Chr7:92494570
| GATAD1, PEX1 | R948Q, R740Q, R891Q | Zellweger spectrum disorders, Peroxisome biogenesis disorder 1A (Zellweger), Heimler syndrome 1,
Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) | Uncertain significance
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:92123712
- GRCh38:
- Chr7:92494398
| GATAD1, PEX1 | | Zellweger spectrum disorders, Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)
| Likely pathogenic
(Jul 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:92147282
- GRCh38:
- Chr7:92517968
| PEX1 | R183* | Zellweger spectrum disorders, Peroxisome biogenesis disorder 1B, Heimler syndrome 1,
Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder,
Peroxisome biogenesis disorder 1A (Zellweger) | Pathogenic/Likely pathogenic
(Apr 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:92134190-92134191
- GRCh38:
- Chr7:92504876-92504877
| PEX1 | K642fs, K434fs | Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) | Likely pathogenic
(Oct 11, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92146721
- GRCh38:
- Chr7:92517407
| PEX1 | I370fs, I162fs | Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B, Zellweger spectrum disorders,
not provided | Pathogenic/Likely pathogenic
(Sep 5, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:92119208-92119209
- GRCh38:
- Chr7:92489894-92489895
| GATAD1, PEX1 | S1152fs, S1095fs, S944fs | Zellweger spectrum disorders, Peroxisome biogenesis disorder 1B, not provided,
Peroxisome biogenesis disorder 1A (Zellweger) | Pathogenic/Likely pathogenic
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:92147095
- GRCh38:
- Chr7:92517781
| PEX1 | L245fs, L37fs | Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) | Likely pathogenic
(Aug 30, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92146674
- GRCh38:
- Chr7:92517360
| PEX1 | | Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) | Likely pathogenic
(Aug 15, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr7:92120817
- GRCh38:
- Chr7:92491503
| GATAD1, PEX1 | | Zellweger spectrum disorders, not provided | Pathogenic/Likely pathogenic
(Feb 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:92120786-92120787
- GRCh38:
- Chr7:92491472-92491473
| GATAD1, PEX1 | L1024fs, L1081fs, L873fs | Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) | Likely pathogenic
(Jul 18, 2016) | criteria provided, single submitter |