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Prepair 1000+

Gene: DOCK8

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

1 review

Melanie Marty (Victorian Clinical Genetics Services)

Green List (high evidence)

Well-established gene-disease association; over 20 unrelated individuals with 30 unique DOCK8 variants identified; multiple mouse models.

DOCK8 variants include frameshift, nonsense, splicing, indel variants along with large deletions leading to truncated protein and LOF.

Patients typically presented with recurrent cutaneous infections, increased serum IgE levels, and severe atopic disease.

Onset in infancy.
Created: 12 Dec 2024, 2:50 a.m. | Last Modified: 12 Dec 2024, 2:50 a.m.
Panel Version: 1.718

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyper-IgE recurrent infection syndrome, autosomal recessive, MIM# 243700

Publications

Created: 12 Dec 2024, 2:50 a.m.
Last Modified: 12 Dec 2024, 2:50 a.m.
Panel version: 1.718

History Filter Activity

13 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dock8 has been classified as Green List (High Evidence).

13 Dec 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DOCK8 were changed from Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (3) to Hyper-IgE recurrent infection syndrome, autosomal recessive, MIM#243700

13 Dec 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DOCK8 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DOCK8 was added gene: DOCK8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: DOCK8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DOCK8 were set to Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (3)