Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: DOCK3

No list

DOCK3 (dedicator of cytokinesis 3)
EnsemblGeneIds (GRCh38): ENSG00000088538
EnsemblGeneIds (GRCh37): ENSG00000088538
OMIM: 603123, Gene2Phenotype
DOCK3 is in 3 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Five unrelated families reported.
Sources: Expert list
Created: 12 Sep 2020, 3:14 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, MIM#618292

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, MIM#618292
OMIM
603123
Clinvar variants
Variants in DOCK3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Sep 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: DOCK3 was added gene: DOCK3 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list Mode of inheritance for gene: DOCK3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DOCK3 were set to 28195318; 29130632; 30976111 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 gene: DOCK3 was marked as current diagnostic