| - GRCh37:
- ChrX:17156992
- GRCh38:
- ChrX:17138869
| REPS2 | Q607*, Q608* | Developmental and epileptic encephalopathy, 1 | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr15:93540293
- GRCh38:
- Chr15:92997063
| CHD2 | K1234N | not provided | Uncertain significance
(Mar 5, 2023) | criteria provided, single submitter |
| - GRCh37:
- ChrX:25033854
- GRCh38:
- ChrX:25015737
| ARX | M1L | Developmental and epileptic encephalopathy, 1 | Likely pathogenic
(Dec 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:166223876-166223877
- GRCh38:
- Chr2:165367366-165367367
| SCN2A | A1226fs | Autism spectrum disorder, CONTINUOUS SPIKE AND WAVES DURING SLOW-WAVE SLEEP SYNDROME, Seizures, benign familial infantile, 3,
Non-syndromic intellectual disability, Developmental and epileptic encephalopathy, 1, Lennox-Gastaut syndrome,
SCN2A-related generalized epilepsy with febrile seizures plus, Myoclonic-astatic epilepsy, West syndrome
| not provided | no assertion provided |
| - GRCh37:
- ChrX:25031883
- GRCh38:
- ChrX:25013766
| ARX | A77T | Partington syndrome, Developmental and epileptic encephalopathy, 1, Corpus callosum agenesis-abnormal genitalia syndrome,
Intellectual disability, X-linked, with or without seizures, arx-related, X-linked lissencephaly with abnormal genitalia | Uncertain significance
(Aug 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:166152541
- GRCh38:
- Chr2:165296031
| SCN2A | P70A | not provided | Uncertain significance
(Sep 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:24512839-25033854
| ARX, PCYT1B, PDK3, POLA1 | | Intellectual disability, X-linked, with or without seizures, arx-related, Developmental and epileptic encephalopathy, 1 | Uncertain significance
(Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:24483573-25033854
| ARX, PCYT1B, PDK3, POLA1 | | Intellectual disability, X-linked, with or without seizures, arx-related, Developmental and epileptic encephalopathy, 1 | Pathogenic
(Jan 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:78133676-78466669
| WWOX | | Developmental and epileptic encephalopathy, 1, Autosomal recessive spinocerebellar ataxia 12 | Uncertain significance
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:78420737-78458972
| WWOX | | Developmental and epileptic encephalopathy, 1, Autosomal recessive spinocerebellar ataxia 12 | Pathogenic
(Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:78133676-78420865
| WWOX | | Developmental and epileptic encephalopathy, 1, Autosomal recessive spinocerebellar ataxia 12 | Uncertain significance
(Jun 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:78148853-78198206
| WWOX | | Developmental and epileptic encephalopathy, 1, Autosomal recessive spinocerebellar ataxia 12 | Pathogenic
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:78148853-78149071
| WWOX | | Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy, 1 | Pathogenic
(Mar 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:78133676-79633799
| MAF, WWOX | | Developmental and epileptic encephalopathy, 1, Autosomal recessive spinocerebellar ataxia 12 | Pathogenic
(Apr 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546150-2550959
| TBC1D24 | | Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1, Autosomal dominant nonsyndromic hearing loss 65
| Uncertain significance
(Oct 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:25031290
- GRCh38:
- ChrX:25013173
| ARX | | Developmental and epileptic encephalopathy, 1, Intellectual disability, X-linked, with or without seizures, arx-related | Likely benign
(Oct 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:78466648
- GRCh38:
- Chr16:78432751
| WWOX | M239T, M352T | Developmental and epileptic encephalopathy, 1, Autosomal recessive spinocerebellar ataxia 12 | Uncertain significance
(Mar 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:78133757
- GRCh38:
- Chr16:78099860
| WWOX | K28E | Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy, 1 | Uncertain significance
(Jan 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:25022980
- GRCh38:
- ChrX:25004863
| ARX | A499V | Intellectual disability, X-linked, with or without seizures, arx-related, Developmental and epileptic encephalopathy, 1 | Uncertain significance
(Aug 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546895
- GRCh38:
- Chr16:2496894
| TBC1D24 | K249M | Developmental and epileptic encephalopathy, 1, Caused by mutation in the TBC1 domain family, member 24, Autosomal dominant nonsyndromic hearing loss 65
| Uncertain significance
(May 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2548246
- GRCh38:
- Chr16:2498245
| TBC1D24 | V331I, V325I | Developmental and epileptic encephalopathy, 1, Caused by mutation in the TBC1 domain family, member 24, Autosomal dominant nonsyndromic hearing loss 65
| Uncertain significance
(Apr 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:25031804-25031809
- GRCh38:
- ChrX:25013687-25013692
| ARX, LOC109610631 | | Developmental and epileptic encephalopathy, 1, Intellectual disability, X-linked, with or without seizures, arx-related | Likely benign
(Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:25031668-25031669
- GRCh38:
- ChrX:25013551-25013552
| ARX, LOC109610631 | | Developmental and epileptic encephalopathy, 1, Intellectual disability, X-linked, with or without seizures, arx-related | Uncertain significance
(Jan 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:25031497
- GRCh38:
- ChrX:25013380
| ARX | | Developmental and epileptic encephalopathy, 1, Intellectual disability, X-linked, with or without seizures, arx-related | Likely benign
(Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:25033836
- GRCh38:
- ChrX:25015719
| ARX | E7K | Developmental and epileptic encephalopathy, 1, Intellectual disability, X-linked, with or without seizures, arx-related | Uncertain significance
(Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:79245631
- GRCh38:
- Chr16:79211734
| MAF, WWOX | P239Q | Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy, 1 | Likely benign
(Aug 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:78466484
- GRCh38:
- Chr16:78432587
| WWOX | S141N | Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy, 1 | Likely benign
(Apr 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:78466514
- GRCh38:
- Chr16:78432617
| WWOX | C151F | Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy, 1 | Likely benign
(Jun 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546626
- GRCh38:
- Chr16:2496625
| TBC1D24 | | not provided, Developmental and epileptic encephalopathy, 1, Caused by mutation in the TBC1 domain family, member 24,
Autosomal dominant nonsyndromic hearing loss 65 | Conflicting interpretations of pathogenicity
(Dec 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:25031516
- GRCh38:
- ChrX:25013399
| ARX | T199K | Intellectual disability, X-linked, with or without seizures, arx-related, Developmental and epileptic encephalopathy, 1, not provided
| Uncertain significance
(Mar 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:78148855
- GRCh38:
- Chr16:78114958
| WWOX | | Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy, 1 | Likely benign
(Jun 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:78466496
- GRCh38:
- Chr16:78432599
| WWOX | S145F | Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy, 1 | Likely benign
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:78133799
- GRCh38:
- Chr16:78099902
| WWOX | | Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy, 1 | Likely benign
(Sep 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:25022901
- GRCh38:
- ChrX:25004784
| ARX | | Intellectual disability, X-linked, with or without seizures, arx-related, Developmental and epileptic encephalopathy, 1 | Likely benign
(Jun 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2548330
- GRCh38:
- Chr16:2498329
| TBC1D24 | E359K, E353K | Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1
| Uncertain significance
(Jun 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:78458952
- GRCh38:
- Chr16:78425055
| WWOX | D108N, R151Q, R264Q | Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy, 1 | Uncertain significance
(Dec 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:79245495
- GRCh38:
- Chr16:79211598
| MAF, WWOX | | Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy, 1 | Likely benign
(Jul 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:78420857
- GRCh38:
- Chr16:78386960
| WWOX | | Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy, 1 | Likely benign
(Jun 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:25031584
- GRCh38:
- ChrX:25013467
| ARX | | Intellectual disability, X-linked, with or without seizures, arx-related, Developmental and epileptic encephalopathy, 1 | Likely benign
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:78420828
- GRCh38:
- Chr16:78386931
| WWOX | | Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy, 1 | Likely benign
(Feb 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:78198093
- GRCh38:
- Chr16:78164196
| WWOX | | Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy, 1 | Likely benign
(Mar 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:78458922
- GRCh38:
- Chr16:78425025
| WWOX | R141H, R254H, V98M | Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy, 1 | Uncertain significance
(Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:25031453
- GRCh38:
- ChrX:25013336
| ARX | G220D | Intellectual disability, X-linked, with or without seizures, arx-related, Developmental and epileptic encephalopathy, 1 | Uncertain significance
(Feb 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:78466565
- GRCh38:
- Chr16:78432668
| WWOX | K169Q | Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy, 1 | Likely benign
(Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:78133795
- GRCh38:
- Chr16:78099898
| WWOX | | Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy, 1 | Likely benign
(Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:78466396
- GRCh38:
- Chr16:78432499
| WWOX | I155N, I268N, L112I | Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy, 1 | Uncertain significance
(Apr 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:25031343
- GRCh38:
- ChrX:25013226
| ARX | R257C | Intellectual disability, X-linked, with or without seizures, arx-related, Developmental and epileptic encephalopathy, 1 | Uncertain significance
(Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:25031833
- GRCh38:
- ChrX:25013716
| ARX | | Intellectual disability, X-linked, with or without seizures, arx-related, Developmental and epileptic encephalopathy, 1 | Likely benign
(Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2547079
- GRCh38:
- Chr16:2497078
| TBC1D24 | | Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1
| Likely benign
(Aug 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:79245651
- GRCh38:
- Chr16:79211754
| MAF, WWOX | S245R, S288R, S401R | Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy, 1 | Uncertain significance
(Mar 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546281
- GRCh38:
- Chr16:2496280
| TBC1D24 | W44* | Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1
| Pathogenic
(Sep 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2550313
- GRCh38:
- Chr16:2500312
| TBC1D24 | | Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1
| Likely benign
(Mar 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2550465
- GRCh38:
- Chr16:2500464
| TBC1D24 | A494G, A500G | Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1
| Likely pathogenic
(Jan 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:25025526
- GRCh38:
- ChrX:25007409
| ARX | R384C | Intellectual disability, X-linked, with or without seizures, arx-related, Developmental and epileptic encephalopathy, 1 | Pathogenic
(Jul 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546926
- GRCh38:
- Chr16:2496925
| TBC1D24 | | Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1
| Likely benign
(Jul 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546866
- GRCh38:
- Chr16:2496865
| TBC1D24 | | Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1
| Likely benign
(Mar 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546926
- GRCh38:
- Chr16:2496925
| TBC1D24 | | Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1
| Likely benign
(Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2550838
- GRCh38:
- Chr16:2500837
| TBC1D24 | G520E, G514E | Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1
| Uncertain significance
(Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:78420844
- GRCh38:
- Chr16:78386947
| WWOX | V45M, V89M, V202M | Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy, 1 | Uncertain significance
(Apr 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:78466669
- GRCh38:
- Chr16:78432772
| WWOX | | Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy, 1 | Likely benign
(Aug 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546832
- GRCh38:
- Chr16:2496831
| TBC1D24 | V228D | Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1
| Uncertain significance
(Oct 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:25031686
- GRCh38:
- ChrX:25013569
| ARX, LOC109610631 | | Intellectual disability, X-linked, with or without seizures, arx-related, Developmental and epileptic encephalopathy, 1 | Likely benign
(Feb 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:78420784
- GRCh38:
- Chr16:78386887
| WWOX | L25V, L182V, L69V | Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy, 1 | Benign
(Feb 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2547700
- GRCh38:
- Chr16:2497699
| TBC1D24 | | Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1
| Likely benign
(Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:25033703
- GRCh38:
- ChrX:25015586
| ARX | P51R | Developmental and epileptic encephalopathy, 1, Intellectual disability, X-linked, with or without seizures, arx-related | Uncertain significance
(Jul 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:25031286
- GRCh38:
- ChrX:25013169
| ARX | A276T | Developmental and epileptic encephalopathy, 1, Intellectual disability, X-linked, with or without seizures, arx-related | Uncertain significance
(Sep 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546918
- GRCh38:
- Chr16:2496917
| TBC1D24 | G257R | Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1
| Uncertain significance
(Jan 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546480
- GRCh38:
- Chr16:2496479
| TBC1D24 | E111Q | Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1
| Uncertain significance
(Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:79245485
- GRCh38:
- Chr16:79211588
| MAF, WWOX | | Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy, 1 | Likely benign
(Feb 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:78466556
- GRCh38:
- Chr16:78432659
| WWOX | D165N | Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy, 1 | Likely benign
(Jun 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:25022876
- GRCh38:
- ChrX:25004759
| ARX | A534P | Developmental and epileptic encephalopathy, 1, Intellectual disability, X-linked, with or without seizures, arx-related | Likely pathogenic
(Nov 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:78143674
- GRCh38:
- Chr16:78109777
| WWOX | | Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy, 1 | Pathogenic
(Jan 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:25031383
- GRCh38:
- ChrX:25013266
| ARX | | Developmental and epileptic encephalopathy, 1, Intellectual disability, X-linked, with or without seizures, arx-related | Likely benign
(May 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:78148868
- GRCh38:
- Chr16:78114971
| WWOX | | Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy, 1 | Uncertain significance
(May 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:25031839
- GRCh38:
- ChrX:25013722
| ARX | | Developmental and epileptic encephalopathy, 1, Intellectual disability, X-linked, with or without seizures, arx-related | Likely benign
(May 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:78458925
- GRCh38:
- Chr16:78425028
| WWOX | V142A, V255A, S99P | Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy, 1 | Uncertain significance
(May 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546567
- GRCh38:
- Chr16:2496566
| TBC1D24 | | Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1
| Likely benign
(May 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:25025272
- GRCh38:
- ChrX:25007155
| ARX | | Intellectual disability, X-linked, with or without seizures, arx-related, Developmental and epileptic encephalopathy, 1 | Likely benign
(May 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2549349
- GRCh38:
- Chr16:2499348
| TBC1D24 | | Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1, Autosomal dominant nonsyndromic hearing loss 65
| Likely benign
(May 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:79245680
- GRCh38:
- Chr16:79211783
| MAF, WWOX | A255P, S298T, S411T | Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy, 1 | Uncertain significance
(Sep 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:78466587
- GRCh38:
- Chr16:78432690
| WWOX | H219D, H332D, S176* | Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy, 1 | Uncertain significance
(Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:25025228
- GRCh38:
- ChrX:25007111
| ARX | R483T | Intellectual disability, X-linked, with or without seizures, arx-related, Developmental and epileptic encephalopathy, 1 | Uncertain significance
(Apr 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:25023040
- GRCh38:
- ChrX:25004923
| ARX | | Intellectual disability, X-linked, with or without seizures, arx-related, Developmental and epileptic encephalopathy, 1 | Likely benign
(Apr 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546419-2546435
- GRCh38:
- Chr16:2496418-2496434
| TBC1D24 | P91fs | Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1, Autosomal dominant nonsyndromic hearing loss 65
| Pathogenic
(Aug 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546330
- GRCh38:
- Chr16:2496329
| TBC1D24 | D61Y | Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1, Autosomal dominant nonsyndromic hearing loss 65
| Uncertain significance
(Apr 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546423
- GRCh38:
- Chr16:2496422
| TBC1D24 | | Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1, Autosomal dominant nonsyndromic hearing loss 65
| Likely benign
(May 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546433
- GRCh38:
- Chr16:2496432
| TBC1D24 | F95S | Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1, Autosomal dominant nonsyndromic hearing loss 65
| Uncertain significance
(Apr 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:78149050
- GRCh38:
- Chr16:78115153
| WWOX | I23M, I136M | Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy, 1 | Uncertain significance
(Apr 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2549432
- GRCh38:
- Chr16:2499431
| TBC1D24 | | Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1, Autosomal dominant nonsyndromic hearing loss 65
| Likely benign
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:25033660
- GRCh38:
- ChrX:25015543
| ARX | | Intellectual disability, X-linked, with or without seizures, arx-related, Developmental and epileptic encephalopathy, 1 | Uncertain significance
(Oct 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2550453
- GRCh38:
- Chr16:2500452
| TBC1D24 | M491fs, M497fs | Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1, Autosomal dominant nonsyndromic hearing loss 65
| Pathogenic
(Jun 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:25022997
- GRCh38:
- ChrX:25004880
| ARX | | Intellectual disability, X-linked, with or without seizures, arx-related, Developmental and epileptic encephalopathy, 1 | Likely benign
(Apr 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:25031219
- GRCh38:
- ChrX:25013102
| ARX | H298L | Intellectual disability, X-linked, with or without seizures, arx-related, Developmental and epileptic encephalopathy, 1 | Uncertain significance
(May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:78466385
- GRCh38:
- Chr16:78432488
| WWOX | D108G | Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy, 1 | Uncertain significance
(Mar 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:25025403
- GRCh38:
- ChrX:25007286
| ARX | A425T | Intellectual disability, X-linked, with or without seizures, arx-related, Developmental and epileptic encephalopathy, 1 | Uncertain significance
(Mar 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:25031677
- GRCh38:
- ChrX:25013560
| ARX, LOC109610631 | | Intellectual disability, X-linked, with or without seizures, arx-related, Developmental and epileptic encephalopathy, 1 | Likely benign
(Mar 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:78420765
- GRCh38:
- Chr16:78386868
| WWOX | | Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy, 1 | Benign
(Mar 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546870
- GRCh38:
- Chr16:2496869
| TBC1D24 | Y241N | Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1, Autosomal dominant nonsyndromic hearing loss 65
| Uncertain significance
(Jun 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:25031274
- GRCh38:
- ChrX:25013157
| ARX | A280P | Intellectual disability, X-linked, with or without seizures, arx-related, Developmental and epileptic encephalopathy, 1 | Uncertain significance
(Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546396
- GRCh38:
- Chr16:2496395
| TBC1D24 | G83C | Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1, Autosomal dominant nonsyndromic hearing loss 65
| Uncertain significance
(Mar 19, 2022) | criteria provided, single submitter |