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Intellectual disability syndromic and non-syndromic

Gene: DOCK8

Red List (low evidence)

DOCK8 (dedicator of cytokinesis 8)
EnsemblGeneIds (GRCh38): ENSG00000107099
EnsemblGeneIds (GRCh37): ENSG00000107099
OMIM: 611432, Gene2Phenotype
DOCK8 is in 12 panels

2 reviews

Shannon Nicolson (University of Melbourne Centre for Cancer Research)

Red List (low evidence)

Copy number changes of 9p24.3 encompassing DOCK8, but also other genes, observed in patients with autism, intellectual disability, developmental delay and ADHD
No change in actin organisation between fibroblast control cells and patient cells containing a deletion in DOCK8 (PMID: 18060736)
Created: 5 Dec 2022, 12:17 p.m. | Last Modified: 5 Dec 2022, 12:17 p.m.
Panel Version: 0.5079

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
MIM#614113 intellectual developmental disorder, autosomal dominant 2

Publications

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

Dubious evidence for association
Created: 30 Nov 2022, 4:40 a.m. | Last Modified: 30 Nov 2022, 4:40 a.m.
Panel Version: 0.5039

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • intellectual developmental disorder, autosomal dominant 2, MIM#614113
OMIM
611432
Clinvar variants
Variants in DOCK8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Dec 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dock8 has been classified as Red List (Low Evidence).

6 Dec 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DOCK8 were changed from to intellectual developmental disorder, autosomal dominant 2, MIM#614113

6 Dec 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DOCK8 were set to

6 Dec 2022, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DOCK8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

30 Nov 2022, Gel status: 1

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: dock8 has been classified as Red List (Low Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DOCK8 was added gene: DOCK8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DOCK8 was set to Unknown