Ataxia and cerebellar anomalies - narrow panel
Gene: DOCK3
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 5 Feb 2023, 5:18 p.m. | Last Modified: 5 Feb 2023, 5:18 p.m.
Panel Version: 3.30
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
Five unrelated families reported.
Sources: Expert listCreated: 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
Tag Q2_21_rating was removed from gene: DOCK3.
Source Expert Review Green was added to DOCK3. Source NHS GMS was added to DOCK3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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
Tag Q2_21_rating tag was added to gene: DOCK3.
Gene: dock3 has been classified as Amber List (Moderate Evidence).
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