| - GRCh37:
- Chr22:38516859
- GRCh38:
- Chr22:38120852
| PLA2G6 | R318Q, R324Q, R372Q, R496Q, R550Q | Autosomal recessive Parkinson disease 14, Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B,
not provided | Uncertain significance
(Jul 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38508551
- GRCh38:
- Chr22:38112544
| PLA2G6 | A520S, A568S, A692S, A514S, A746S | Autosomal recessive Parkinson disease 14, Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B,
Infantile neuroaxonal dystrophy | Uncertain significance
(Jan 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38531035
- GRCh38:
- Chr22:38135028
| PLA2G6 | R59H, R285H, R107H | not provided, Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B,
Autosomal recessive Parkinson disease 14, Inborn genetic diseases, Infantile neuroaxonal dystrophy
| Uncertain significance
(Feb 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38516823
- GRCh38:
- Chr22:38120816
| PLA2G6 | E330G, E384G, E336G, E508G, E562G | Infantile neuroaxonal dystrophy, Autosomal recessive Parkinson disease 14, Infantile neuroaxonal dystrophy,
Neurodegeneration with brain iron accumulation 2B | Uncertain significance
(Apr 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38512112
- GRCh38:
- Chr22:38116105
| PLA2G6 | V385I, V391I, V563I, V439I, V617I | Inborn genetic diseases, Infantile neuroaxonal dystrophy, not provided,
Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B, Autosomal recessive Parkinson disease 14
| Conflicting interpretations of pathogenicity
(Dec 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:38508553
- GRCh38:
- Chr22:38112546
| PLA2G6 | R513Q, R519Q, R567Q, R691Q, R745Q | Autosomal recessive Parkinson disease 14, Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B,
not provided, Infantile neuroaxonal dystrophy | Uncertain significance
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38535989
- GRCh38:
- Chr22:38139982
| PLA2G6 | G266A, G88A | not provided, Autosomal recessive Parkinson disease 14 | Conflicting interpretations of pathogenicity
(Mar 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:38539240
- GRCh38:
- Chr22:38143233
| PLA2G6 | R161C | Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B, Autosomal recessive Parkinson disease 14,
not provided, Infantile neuroaxonal dystrophy | Uncertain significance
(Aug 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38541475
- GRCh38:
- Chr22:38145468
| PLA2G6 | R132H | Autosomal recessive Parkinson disease 14, Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B,
Inborn genetic diseases, Infantile neuroaxonal dystrophy | Uncertain significance
(Jun 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38565318
- GRCh38:
- Chr22:38169311
| PLA2G6 | R39Q | PLA2G6-associated neurodegeneration, Autosomal recessive Parkinson disease 14, Infantile neuroaxonal dystrophy,
Neurodegeneration with brain iron accumulation 2B, Infantile neuroaxonal dystrophy | Uncertain significance
(Jan 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38512175
- GRCh38:
- Chr22:38116168
| PLA2G6 | L364F, L370F, L418F, L542F, L596F | Autosomal recessive Parkinson disease 14, Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B,
Infantile neuroaxonal dystrophy | Uncertain significance
(Jul 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38508547
- GRCh38:
- Chr22:38112540
| PLA2G6 | R515Q, R521Q, R569Q, R693Q, R747Q | Inborn genetic diseases, Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B,
Autosomal recessive Parkinson disease 14, not provided, Infantile neuroaxonal dystrophy
| Uncertain significance
(Oct 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38528959
- GRCh38:
- Chr22:38132952
| PLA2G6 | T141M, T93M, T319M | not specified, PLA2G6-associated neurodegeneration, not provided,
Infantile neuroaxonal dystrophy | Conflicting interpretations of pathogenicity
(Oct 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:38528854
- GRCh38:
- Chr22:38132847
| PLA2G6 | L128P, L176P, L354P | not specified, Infantile neuroaxonal dystrophy | Conflicting interpretations of pathogenicity
(Jun 27, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:38522378
- GRCh38:
- Chr22:38126371
| PLA2G6 | T298I, T422I, T244I, T250I, T476I | Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration, Autosomal recessive Parkinson disease 14,
Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B, not provided,
Inborn genetic diseases | Conflicting interpretations of pathogenicity
(Sep 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:38565405
- GRCh38:
- Chr22:38169398
| PLA2G6 | T10N | Autosomal recessive Parkinson disease 14, not provided | Uncertain significance
(May 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38529014
- GRCh38:
- Chr22:38133007
| PLA2G6 | R75C, R123C, R301C | Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B, Autosomal recessive Parkinson disease 14,
Infantile neuroaxonal dystrophy, not provided | Uncertain significance
(Oct 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38539274
- GRCh38:
- Chr22:38143267
| PLA2G6 | | not provided, Infantile neuroaxonal dystrophy, Autosomal recessive Parkinson disease 14,
Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B | Likely benign
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38565418
- GRCh38:
- Chr22:38169411
| PLA2G6 | R6C | Inborn genetic diseases, not provided, PLA2G6-associated neurodegeneration,
Autosomal recessive Parkinson disease 14, Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B,
Infantile neuroaxonal dystrophy | Uncertain significance
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38522424
- GRCh38:
- Chr22:38126417
| PLA2G6 | R461W, R407W, R229W, R235W, R283W | Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B, Autosomal recessive Parkinson disease 14,
Infantile neuroaxonal dystrophy, not provided | Uncertain significance
(Jul 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38522377
- GRCh38:
- Chr22:38126370
| PLA2G6 | | not provided, Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B,
Autosomal recessive Parkinson disease 14, PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy
| Pathogenic/Likely pathogenic
(Jan 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38541454
- GRCh38:
- Chr22:38145447
| PLA2G6 | R139H | not provided, Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B,
Autosomal recessive Parkinson disease 14, Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration
| Conflicting interpretations of pathogenicity
(Jul 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:38565343
- GRCh38:
- Chr22:38169336
| PLA2G6 | D31N | Autosomal recessive Parkinson disease 14, Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B,
Inborn genetic diseases, PLA2G6-associated neurodegeneration, not provided,
Infantile neuroaxonal dystrophy | Conflicting interpretations of pathogenicity
(Sep 6, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:38565333
- GRCh38:
- Chr22:38169326
| PLA2G6 | S34L | Autosomal recessive Parkinson disease 14, Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B,
not specified, PLA2G6-associated neurodegeneration, not provided,
Infantile neuroaxonal dystrophy | Conflicting interpretations of pathogenicity
(Oct 20, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:38539282
- GRCh38:
- Chr22:38143275
| PLA2G6 | A147T | not specified, not provided, PLA2G6-associated neurodegeneration,
Autosomal recessive Parkinson disease 14, Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B,
Infantile neuroaxonal dystrophy | Uncertain significance
(Aug 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38519162
- GRCh38:
- Chr22:38123155
| PLA2G6 | L511V, L333V, L457V, L285V, L279V | not provided, Autosomal recessive Parkinson disease 14, Infantile neuroaxonal dystrophy,
Neurodegeneration with brain iron accumulation 2B, PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy
| Uncertain significance
(Apr 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38528838
- GRCh38:
- Chr22:38132831
| PLA2G6 | | PLA2G6-associated neurodegeneration, Autosomal recessive Parkinson disease 14, Infantile neuroaxonal dystrophy,
Neurodegeneration with brain iron accumulation 2B, Infantile neuroaxonal dystrophy, not provided
| Pathogenic
(Jan 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38508566
- GRCh38:
- Chr22:38112559
| PLA2G6 | R741W, R509W, R515W, R687W, R563W | Neurodegeneration with brain iron accumulation 2B, PLA2G6-associated neurodegeneration, Autosomal recessive Parkinson disease 14,
Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B, Neurodegeneration with brain iron accumulation,
Infantile neuroaxonal dystrophy, not provided | Pathogenic/Likely pathogenic
(Jan 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38529017
- GRCh38:
- Chr22:38133010
| PLA2G6 | A300T, A74T, A122T | PLA2G6-associated neurodegeneration, Autosomal recessive Parkinson disease 14, Infantile neuroaxonal dystrophy,
Neurodegeneration with brain iron accumulation 2B, not provided, Infantile neuroaxonal dystrophy
| Conflicting interpretations of pathogenicity
(Dec 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:38508172
- GRCh38:
- Chr22:38112165
| PLA2G6 | P806R, P628R, P752R, P574R, P580R | Infantile neuroaxonal dystrophy, Autosomal recessive Parkinson disease 14, not specified,
PLA2G6-associated neurodegeneration, not provided | Conflicting interpretations of pathogenicity
(Jul 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:38565366
- GRCh38:
- Chr22:38169359
| PLA2G6 | R23Q | not provided, Autosomal recessive Parkinson disease 14, Infantile neuroaxonal dystrophy,
Neurodegeneration with brain iron accumulation 2B, Iron accumulation in brain, Infantile neuroaxonal dystrophy
| Uncertain significance
(Sep 29, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38512162
- GRCh38:
- Chr22:38116155
| PLA2G6 | R600Q, R374Q, R546Q, R368Q, R422Q | Neurodegeneration with brain iron accumulation, not provided, Inborn genetic diseases,
Infantile neuroaxonal dystrophy, Autosomal recessive Parkinson disease 14, Neurodegeneration with brain iron accumulation 2B,
Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B, Infantile osteopetrosis with neuroaxonal dysplasia,
PLA2G6-associated neurodegeneration, Iron accumulation in brain ...see more | Pathogenic/Likely pathogenic
(May 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38516834
- GRCh38:
- Chr22:38120827
| PLA2G6 | L334fs, L382fs, L328fs, L506fs, L560fs | PLA2G6-associated neurodegeneration, Autosomal recessive Parkinson disease 14, Infantile neuroaxonal dystrophy,
Neurodegeneration with brain iron accumulation 2B, Iron accumulation in brain | Pathogenic/Likely pathogenic
(Jan 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38516893
- GRCh38:
- Chr22:38120886
| PLA2G6 | G539S, G307S, G361S, G313S, G485S | PLA2G6-associated neurodegeneration, Autosomal recessive Parkinson disease 14, Infantile neuroaxonal dystrophy,
Neurodegeneration with brain iron accumulation 2B, not provided, Infantile neuroaxonal dystrophy,
Iron accumulation in brain | Conflicting interpretations of pathogenicity
(May 18, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:38528924
- GRCh38:
- Chr22:38132917
| PLA2G6 | D331Y, D105Y, D153Y | PLA2G6-associated neurodegeneration, not provided, Infantile neuroaxonal dystrophy
| Pathogenic
(Jan 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38541654
- GRCh38:
- Chr22:38145647
| PLA2G6 | F72L | Autosomal recessive Parkinson disease 14 | Pathogenic
(Oct 12, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr22:38522451
- GRCh38:
- Chr22:38126444
| PLA2G6 | Q452*, Q220*, Q226*, Q274*, Q398* | Autosomal recessive Parkinson disease 14 | Pathogenic
(Oct 12, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr22:38511664
- GRCh38:
- Chr22:38115657
| PLA2G6 | R635Q, R403Q, R581Q, R457Q, R409Q | PLA2G6-associated neurodegeneration, Autosomal recessive Parkinson disease 14, Neurodegeneration with brain iron accumulation 2B,
Infantile neuroaxonal dystrophy, not provided, Infantile neuroaxonal dystrophy
| Conflicting interpretations of pathogenicity
(Jan 24, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:38508548
- GRCh38:
- Chr22:38112541
| PLA2G6 | R747W, R521W, R515W, R569W, R693W | PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B,
Autosomal recessive Parkinson disease 14, not provided, Autosomal recessive Parkinson disease 14
| Pathogenic/Likely pathogenic
(Jan 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38508565
- GRCh38:
- Chr22:38112558
| PLA2G6 | R741Q, R515Q, R687Q, R509Q, R563Q | Autosomal recessive Parkinson disease 14, Neurodegeneration with brain iron accumulation 2B, Infantile neuroaxonal dystrophy,
not provided, Neurodegeneration with brain iron accumulation, Neurodegeneration with brain iron accumulation 2B,
Autosomal recessive Parkinson disease 14, Infantile neuroaxonal dystrophy | Pathogenic/Likely pathogenic
(Feb 17, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38541632
- GRCh38:
- Chr22:38145625
| PLA2G6 | A80T | PLA2G6-associated neurodegeneration, Autosomal recessive Parkinson disease 14, Infantile neuroaxonal dystrophy,
Neurodegeneration with brain iron accumulation 2B, not provided, Infantile neuroaxonal dystrophy
| Pathogenic/Likely pathogenic
(May 30, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38508218-38508219
- GRCh38:
- Chr22:38112211-38112212
| PLA2G6 | | PLA2G6-associated neurodegeneration, Inborn genetic diseases, Autosomal recessive Parkinson disease 14,
Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B, not provided,
Infantile neuroaxonal dystrophy, Iron accumulation in brain | Pathogenic/Likely pathogenic
(Jan 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38516874
- GRCh38:
- Chr22:38120867
| PLA2G6 | K545T, K491T, K313T, K319T, K367T | not provided, Autosomal recessive Parkinson disease 14 | Pathogenic/Likely pathogenic
(Jan 30, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38508219
- GRCh38:
- Chr22:38112212
| PLA2G6 | Y790*, Y558*, Y564*, Y612*, Y736* | PLA2G6-related condition, Autism, Seizure,
PLA2G6-associated neurodegeneration, not provided, Neurodegeneration with brain iron accumulation,
Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B, Iron accumulation in brain,
Inborn genetic diseases, Abnormality of the nervous systemInfantile neuroaxonal dystrophy,
Neurodegeneration with brain iron accumulation 2B, Autosomal recessive Parkinson disease 14, ...see more | Conflicting interpretations of pathogenicity
(Sep 23, 2023) | criteria provided, conflicting interpretations |