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  2. Interstitial Lung Disease
  3. DOCK8
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Interstitial Lung Disease

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

Suzanna Lindsey-Temple (Liverpool Hospital)

Green List (high evidence)

Over 15 unrelated families reported.
Well-established gene-disease association. Animal models and functional data.
Created: 6 Nov 2021, 2:25 a.m. | Last Modified: 6 Nov 2021, 2:25 a.m.
Panel Version: 0.183

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Childhood bronchiectasis

Publications

Created: 6 Nov 2021, 2:25 a.m.
Last Modified: 6 Nov 2021, 2:25 a.m.
Panel version: 0.183

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyper-IgE recurrent infection syndrome, autosomal recessive, MIM# 243700
  • Childhood bronchiectasis
Tags
treatable
OMIM
611432
Clinvar variants
Variants in DOCK8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Nov 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: DOCK8.

8 Nov 2021, 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).

7 Nov 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DOCK8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

7 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DOCK8 were set to

7 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DOCK8 were changed from to Hyper-IgE recurrent infection syndrome, autosomal recessive, MIM# 243700; Childhood bronchiectasis

17 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 Interstitial Lung Disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DOCK8 was set to Unknown