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Mendeliome

Gene: DOCK4

Green List (high evidence)

DOCK4 (dedicator of cytokinesis 4)
EnsemblGeneIds (GRCh38): ENSG00000128512
EnsemblGeneIds (GRCh37): ENSG00000128512
OMIM: 607679, Gene2Phenotype
DOCK4 is in 2 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

7 unrelated individuals reported with heterozygous variants (missense or null variants) in DOCK4. The individuals either had ID or DD between mild and moderate with brain abnormalities. Two of the individuals are reportedly compound heterozygous.

Functional assay neuro-2A Dock4 knockout cells by using the Alt-R CRISPR-Cas9 system utilizing two different guide RNAs (ko1 and ko2) and one nonspecific control guide RNA (C: control). The assay depicted the loss of function mechanism in the presence of either p.Arg853Leu and p.Asp946_Lys1966delinsValSer* (described as 945VS).
Sources: Other
Created: 4 Apr 2024, 5:59 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
DOCK4-related neurodevelopmental disorder (MONDO:0060490)

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • DOCK4-related neurodevelopmental disorder (MONDO:0060490)
OMIM
607679
Clinvar variants
Variants in DOCK4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Apr 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dock4 has been classified as Green List (High Evidence).

4 Apr 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dock4 has been classified as Green List (High Evidence).

4 Apr 2024, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: DOCK4 was added gene: DOCK4 was added to Mendeliome. Sources: Other Mode of inheritance for gene: DOCK4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DOCK4 were set to PMID: 38526744 Phenotypes for gene: DOCK4 were set to DOCK4-related neurodevelopmental disorder (MONDO:0060490) Review for gene: DOCK4 was set to GREEN