| - GRCh37:
- Chr19:36549746
- GRCh38:
- Chr19:36058844
| WDR62 | G81D | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Uncertain significance
(Jan 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36564374-36564375
- GRCh38:
- Chr19:36073472-36073473
| WDR62 | L401fs | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Pathogenic
(Nov 2, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36585017
- GRCh38:
- Chr19:36094115
| WDR62 | C689W, C801W, C806W | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Uncertain significance
(Apr 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36583664
- GRCh38:
- Chr19:36092762
| WDR62 | R645W, R757W, R762W | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Uncertain significance
(Dec 13, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36545939
- GRCh38:
- Chr19:36055037
| WDR62 | M22I | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Uncertain significance
(Sep 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36580142
- GRCh38:
- Chr19:36089240
| WDR62 | L514S, L626S, L631S | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Uncertain significance
(Apr 4, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36557228
- GRCh38:
- Chr19:36066326
| WDR62 | H154Y | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Uncertain significance
(Sep 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36580156
- GRCh38:
- Chr19:36089254
| WDR62 | I519L, I631L, I636L | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Uncertain significance
(Jun 13, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36593740
- GRCh38:
- Chr19:36102838
| WDR62 | Q1025*, Q1103*, Q1108*, Q215*, Q991* | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Likely pathogenic
(Apr 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36575592-36575593
- GRCh38:
- Chr19:36084690-36084691
| WDR62 | E531fs | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Likely pathogenic
(Jan 25, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36594458-36594467
- GRCh38:
- Chr19:36103556-36103565
| WDR62 | T1239fs, T1244fs | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, not provided | Pathogenic
(Feb 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:36593844
- GRCh38:
- Chr19:36102942
| WDR62 | | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Uncertain significance
(Aug 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36592578
- GRCh38:
- Chr19:36101676
| WDR62 | S107*, S878*, S990*, S995* | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Pathogenic
(May 21, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36592914
- GRCh38:
- Chr19:36102012
| WDR62 | | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Uncertain significance
(Sep 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36594593
- GRCh38:
- Chr19:36103691
| WDR62 | W1171*, W1205*, W1283*, W1288*, W395* | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Pathogenic
(Feb 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36575608-36575609
- GRCh38:
- Chr19:36084706-36084707
| WDR62 | E536* | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Pathogenic
(Jun 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36593926
- GRCh38:
- Chr19:36103024
| WDR62 | G1133*, G1138* | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr19:36564338
- GRCh38:
- Chr19:36073436
| WDR62 | D380N | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Uncertain significance
(Aug 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36549752-36549753
- GRCh38:
- Chr19:36058850-36058851
| WDR62 | H84fs | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Pathogenic
(Mar 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36574128
- GRCh38:
- Chr19:36083226
| WDR62 | R512L | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, not provided | Uncertain significance
(Feb 16, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:36594064
- GRCh38:
- Chr19:36103162
| WDR62 | A1152T, A1157T | not specified, Inborn genetic diseases, not provided,
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Uncertain significance
(Feb 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:36557191
- GRCh38:
- Chr19:36066289
| WDR62 | | not specified, Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Conflicting interpretations of pathogenicity
(Jan 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:36558305
- GRCh38:
- Chr19:36067403
| WDR62 | H220R | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr19:36592664
- GRCh38:
- Chr19:36101762
| WDR62 | H1025fs | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Uncertain significance
(May 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36583640
- GRCh38:
- Chr19:36092738
| WDR62 | Q754* | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Likely pathogenic
(Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36550850-36550882
- GRCh38:
- Chr19:36059948-36059980
| WDR62 | | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Likely pathogenic
(Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36564394
- GRCh38:
- Chr19:36073492
| WDR62 | W398* | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Likely pathogenic
(Jul 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36549701-36549702
- GRCh38:
- Chr19:36058799-36058800
| WDR62 | I68fs | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Pathogenic
(Jul 21, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36595755
- GRCh38:
- Chr19:36104853
| WDR62 | L1461Q, L1466Q | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, not provided | Uncertain significance
(May 6, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:36590536
- GRCh38:
- Chr19:36099634
| WDR62 | | not provided, Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Benign/Likely benign
(Oct 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:36572334
- GRCh38:
- Chr19:36081432
| WDR62 | | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, not provided | Pathogenic/Likely pathogenic
(Sep 12, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:36558713
- GRCh38:
- Chr19:36067811
| WDR62 | | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Uncertain significance
(Dec 4, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36557249
- GRCh38:
- Chr19:36066347
| WDR62 | V161M | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Uncertain significance
(Nov 8, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36550932
- GRCh38:
- Chr19:36060030
| WDR62 | R111T | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Likely pathogenic
(Nov 15, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36564369
- GRCh38:
- Chr19:36073467
| WDR62 | D390G | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Uncertain significance
(Apr 14, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36593896-36593914
- GRCh38:
- Chr19:36102994-36103012
| WDR62 | S1123fs, S1128fs | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Pathogenic
(Jan 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr19:36574119
- GRCh38:
- Chr19:36083217
| WDR62 | S509L | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Likely pathogenic
(Jan 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr19:36594063-36594064
- GRCh38:
- Chr19:36103161-36103162
| WDR62 | A1152fs, A1157fs | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Pathogenic
(Jan 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr19:36575602
- GRCh38:
- Chr19:36084700
| WDR62 | H533R | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Uncertain significance
(Apr 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36581350-36581351
- GRCh38:
- Chr19:36090448-36090449
| WDR62 | Y655fs | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr19:36545991
- GRCh38:
- Chr19:36055089
| WDR62 | I40V | Inborn genetic diseases | Uncertain significance
(Mar 27, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36587947
- GRCh38:
- Chr19:36097045
| WDR62 | T829I | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr19:36590368
- GRCh38:
- Chr19:36099466
| WDR62 | R863H | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Uncertain significance
(Aug 18, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36595669
- GRCh38:
- Chr19:36104767
| WDR62 | | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, Intellectual disability | Conflicting interpretations of pathogenicity
(Aug 3, 2020) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:36575580
- GRCh38:
- Chr19:36084678
| WDR62 | E526* | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Pathogenic
(Sep 26, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36590508
- GRCh38:
- Chr19:36099606
| WDR62 | L910M | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Uncertain significance
(May 6, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36595703
- GRCh38:
- Chr19:36104801
| WDR62 | Q1449*, Q1444* | not provided | Uncertain significance
(May 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36592198
- GRCh38:
- Chr19:36101296
| WDR62 | K984E | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36550928
- GRCh38:
- Chr19:36060026
| WDR62 | A110T | Inborn genetic diseases, not provided, Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
| Uncertain significance
(Dec 6, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:36550872
- GRCh38:
- Chr19:36059970
| WDR62 | C91Y | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36549745
- GRCh38:
- Chr19:36058843
| WDR62 | G81S | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36546032
- GRCh38:
- Chr19:36055130
| WDR62 | | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36594680
- GRCh38:
- Chr19:36103778
| WDR62 | P1312L, P1317L | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36594587
- GRCh38:
- Chr19:36103685
| WDR62 | R1281H, R1286H | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36591724
- GRCh38:
- Chr19:36100822
| WDR62 | | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36590404
- GRCh38:
- Chr19:36099502
| WDR62 | T875I | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36564448
- GRCh38:
- Chr19:36073546
| WDR62 | | not provided, Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Likely benign
(Oct 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:36564444
- GRCh38:
- Chr19:36073542
| WDR62 | | not provided, Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:36545994
- GRCh38:
- Chr19:36055092
| WDR62 | C41S | not provided, Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Conflicting interpretations of pathogenicity
(Oct 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:36545937
- GRCh38:
- Chr19:36055035
| WDR62 | M22L | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36595987
- GRCh38:
- Chr19:36105085
| WDR62 | | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36584920
- GRCh38:
- Chr19:36094018
| WDR62 | | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Uncertain significance
(Mar 23, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36564383
- GRCh38:
- Chr19:36073481
| WDR62 | G395S | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36562559
- GRCh38:
- Chr19:36071657
| WDR62 | | not provided, Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Conflicting interpretations of pathogenicity
(Oct 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:36562467
- GRCh38:
- Chr19:36071565
| WDR62 | S298P | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36558854
- GRCh38:
- Chr19:36067952
| WDR62 | S275L | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, Inborn genetic diseases, not provided
| Conflicting interpretations of pathogenicity
(Aug 21, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:36593626
- GRCh38:
- Chr19:36102724
| WDR62 | | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36593624
- GRCh38:
- Chr19:36102722
| WDR62 | | not provided, Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Uncertain significance
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:36581388
- GRCh38:
- Chr19:36090486
| WDR62 | K667R | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36580075
- GRCh38:
- Chr19:36089173
| WDR62 | | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36580022
- GRCh38:
- Chr19:36089120
| WDR62 | | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36577655
- GRCh38:
- Chr19:36086753
| WDR62 | Y570C | Inborn genetic diseases, not provided, Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
| Uncertain significance
(Feb 28, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:36558833
- GRCh38:
- Chr19:36067931
| WDR62 | S268T | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36557314
- GRCh38:
- Chr19:36066412
| WDR62 | | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, not provided | Conflicting interpretations of pathogenicity
(Sep 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:36558866
- GRCh38:
- Chr19:36067964
| WDR62 | C279Y | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Likely pathogenic
(Jan 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36558315
- GRCh38:
- Chr19:36067413
| WDR62 | W224fs | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Pathogenic
(Feb 24, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36579989-36579990
- GRCh38:
- Chr19:36089087-36089088
| WDR62 | R608fs | not provided | Pathogenic
(Mar 25, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36592657
- GRCh38:
- Chr19:36101755
| WDR62 | | not provided, Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Conflicting interpretations of pathogenicity
(Dec 31, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:36594763
- GRCh38:
- Chr19:36103861
| WDR62 | R1340C, R1345C | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, not provided | Conflicting interpretations of pathogenicity
(Feb 1, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:36591698
- GRCh38:
- Chr19:36100796
| WDR62 | Q930* | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr19:36595549
- GRCh38:
- Chr19:36104647
| WDR62 | F1423S, F1428S | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36557149
- GRCh38:
- Chr19:36066247
| WDR62 | | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, not specified, not provided
| Conflicting interpretations of pathogenicity
(Aug 8, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:36562450-36562461
- GRCh38:
- Chr19:36071548-36071559
| WDR62 | | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Likely pathogenic
(Jun 21, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr19:36577630
- GRCh38:
- Chr19:36086728
| WDR62 | H562D | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Likely pathogenic
(Jun 21, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr19:36594608
- GRCh38:
- Chr19:36103706
| WDR62 | A1293D, A1288D | not provided, Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Uncertain significance
(Jan 23, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:36545946-36545947
- GRCh38:
- Chr19:36055044-36055045
| WDR62 | P26fs | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Uncertain significance
(Oct 26, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36564329
- GRCh38:
- Chr19:36073427
| WDR62 | V377L | not provided, Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Uncertain significance
(Apr 1, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:36581373-36581375
- GRCh38:
- Chr19:36090471-36090473
| WDR62 | K664del | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, Intellectual disability, not provided
| Conflicting interpretations of pathogenicity
(May 23, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:36592652
- GRCh38:
- Chr19:36101750
| WDR62 | A1020T | not provided, Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Conflicting interpretations of pathogenicity
(Sep 12, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:36592551
- GRCh38:
- Chr19:36101649
| WDR62 | | not provided, Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Likely benign
(Aug 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:36558774
- GRCh38:
- Chr19:36067872
| WDR62 | | not specified, Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, not provided
| Benign/Likely benign
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:36583617
- GRCh38:
- Chr19:36092715
| WDR62 | P746L | not provided, Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Uncertain significance
(Jan 12, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:36549707
- GRCh38:
- Chr19:36058805
| WDR62 | I68T | Inborn genetic diseases, not specified, not provided,
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Conflicting interpretations of pathogenicity
(Feb 7, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:36572339
- GRCh38:
- Chr19:36081437
| WDR62 | Y413F | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, not provided | Uncertain significance
(Jan 13, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:36577642
- GRCh38:
- Chr19:36086740
| WDR62 | V566M | not provided, Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Uncertain significance
(Aug 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:36592602-36592603
- GRCh38:
- Chr19:36101700-36101701
| WDR62 | P1012fs | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Pathogenic
(Mar 16, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36594110
- GRCh38:
- Chr19:36103208
| WDR62 | | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, not provided | Pathogenic/Likely pathogenic
(Sep 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:36590364
- GRCh38:
- Chr19:36099462
| WDR62 | G862S | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Likely pathogenic
(Apr 25, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr19:36594463
- GRCh38:
- Chr19:36103561
| WDR62 | L1245M, L1240M | not provided, Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Uncertain significance
(May 19, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:36575644
- GRCh38:
- Chr19:36084742
| WDR62 | T547M | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, not provided | Uncertain significance
(Oct 31, 2018) | criteria provided, multiple submitters, no conflicts |