Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: DOCK3

Amber List (moderate evidence)

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

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least seven variants reported in at least five unrelated cases.
Created: 14 Apr 2021, 1:41 p.m. | Last Modified: 14 Apr 2021, 1:41 p.m.
Panel Version: 2.97
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 14 Apr 2021, 1:35 p.m. | Last Modified: 14 Apr 2021, 1:35 p.m.
Panel Version: 2.96

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
  • Expert Review Amber
Phenotypes
  • Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia OMIM:618292
  • neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia MONDO:0032661
Tags
Q2_21_rating
OMIM
603123
Clinvar variants
Variants in DOCK3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Apr 2021, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: DOCK3 were changed from Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, MIM#618292 to Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia OMIM:618292; neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia MONDO:0032661

14 Apr 2021, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: DOCK3.

14 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: dock3 has been classified as Amber List (Moderate Evidence).

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