| - GRCh37:
- Chr14:36987063
- GRCh38:
- Chr14:36517858
| NKX2-1, SFTA3 | R179P, R209P | Hereditary ataxia, Chorea, Brain-lung-thyroid syndrome
| Pathogenic/Likely pathogenic
(Dec 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:12351346
- Chr18:12340322
- GRCh38:
- Chr18:12351347
- Chr18:12340323
| AFG3L2, AFG3L2 | A462V, Q620K | Spasticity, Optic atrophy, Myoclonus,
Chorea, Cerebellar ataxia | Pathogenic | no assertion criteria provided |
| - GRCh38:
- Chr6:106539151-106629957
| LOC129996910, LOC129996911, QRSL1, RTN4IP1, CRYBG1, LOC123775393, LOC129389600 | | Macrocephaly, Chorea, Short stature,
Global developmental delay | Uncertain significance
(May 13, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr6:107076634
- GRCh38:
- Chr6:106628759
| RTN4IP1 | V88G | not provided, Macrocephaly, Global developmental delay,
Chorea, Short stature | Uncertain significance
(Jul 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:56368721
- GRCh38:
- Chr16:56334809
| GNAO1 | T182I | Dyskinesia, Chorea | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr11:72297116
- GRCh38:
- Chr11:72586072
| PDE2A | Q387*, Q394*, Q373*, Q385* | EEG abnormality, Intellectual disability, moderate, Generalized hypotonia,
Chorea, Paroxysmal dystonia, Interictal EEG abnormality
| Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr19:10251813
- GRCh38:
- Chr19:10141137
| DNMT1 | S1121I, S1000I, S1105I | Choreoathetosis, Paroxysmal choreoathetosis, Paroxysmal dyskinesia,
Sleep abnormality, Chorea | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr3:129694684
- GRCh38:
- Chr3:129975841
| TRH | A9T | Generalized hypotonia, Global developmental delay, Chorea,
Seizure, Brachycephaly | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr3:122000933
- GRCh38:
- Chr3:122282086
| CASR | L538F | Generalized hypotonia, Global developmental delay, Chorea,
Seizure, Brachycephaly | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- ChrX:135122214-135122230
- GRCh38:
- ChrX:136040055-136040071
| SLC9A6 | | Autism, Secondary microcephaly, Chorea,
Global developmental delay, Clinodactyly of the 5th finger, Seizure,
Short stature, Failure to thrive, Pectus excavatum,
Esotropia, Focal white matter lesionsDeeply set eye,
Generalized hypotonia, Abnormal nonverbal communicative behavior, See cases,
...see more | Likely pathogenic
(Dec 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:22865224
- GRCh38:
- Chr8:23007711
| RHOBTB2 | R511Q, R489Q, R496Q | Developmental and epileptic encephalopathy, 64, Inborn genetic diseases, not provided
| Pathogenic
(Aug 17, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:56370758
- GRCh38:
- Chr16:56336846
| GNAO1 | E237K | Early infantile epileptic encephalopathy with suppression bursts, Developmental and epileptic encephalopathy, 17, Neurodevelopmental disorder with involuntary movements,
not provided | Pathogenic/Likely pathogenic
(Jul 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:13410054
- GRCh38:
- Chr19:13299240
| CACNA1A | D799V, D802V, D798V | Amyotrophic lateral sclerosis, Cerebellar ataxia, Chorea
| Uncertain significance
(May 3, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr19:10259562
- GRCh38:
- Chr19:10148886
| DNMT1 | F906L, F785L, F890L | Cerebellar ataxia, Dysphagia, Dysarthria,
Chorea, Cerebral atrophy, Cerebellar atrophy,
Acanthocytosis | Uncertain significance
(Nov 17, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr9:111911955-111911956
- GRCh38:
- Chr9:109149675-109149676
| FRRS1L | I95fs | Developmental and epileptic encephalopathy, 37 | Pathogenic
(Jul 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:111903746-111903748
- GRCh38:
- Chr9:109141466-109141468
| FRRS1L | G195del | Developmental and epileptic encephalopathy, 37, not provided | Pathogenic/Likely pathogenic
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:111903640
- GRCh38:
- Chr9:109141360
| FRRS1L | W231* | Developmental and epileptic encephalopathy, 37 | Pathogenic
(Jan 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:111899809
- GRCh38:
- Chr9:109137529
| FRRS1L | Q321*, Q270* | Developmental and epileptic encephalopathy, 37 | Pathogenic
(Aug 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:99657779
- GRCh38:
- ChrX:100402781
| LOC125467768, PCDH19 | R740C, R787C | Paroxysmal choreoathetosis, Paroxysmal dyskinesia, Chorea,
Sleep abnormality, Choreoathetosis, Developmental and epileptic encephalopathy, 9
| Uncertain significance
(Sep 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:45194641
- GRCh38:
- Chr21:43774760
| CSTB | | Encephalopathy, Cerebral dysmyelination, Microcephaly,
Inborn genetic diseases, Progressive myoclonic epilepsy, not provided,
Unverricht-Lundborg syndrome | Conflicting interpretations of pathogenicity
(Oct 14, 2022) | criteria provided, conflicting interpretations |