Ataxia - paediatric
Gene: DOCK3EnsemblGeneIds (GRCh38): ENSG00000088538
EnsemblGeneIds (GRCh37): ENSG00000088538
OMIM: 603123, Gene2Phenotype
DOCK3 is in 3 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Five unrelated families reported.Created: 12 Sep 2020, 3:14 a.m. | Last Modified: 12 Sep 2020, 3:14 a.m.
Panel Version: 0.233
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, MIM#618292
Publications
Bryony Thompson (Royal Melbourne Hospital)
Ataxia is a feature of the phenotype
Sources: Expert listCreated: 27 Dec 2019, 4:54 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, MIM#618292
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, MIM#618292
- OMIM
- 603123
- Clinvar variants
- Variants in DOCK3
- Penetrance
- None
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dock3 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: dock3 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: DOCK3 was added gene: DOCK3 was added to Ataxia - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: DOCK3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DOCK3 were set to Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, MIM#618292 Review for gene: DOCK3 was set to GREEN