Inflammatory bowel disease

Gene: DOCK11

Green List (high evidence)

DOCK11 (dedicator of cytokinesis 11)
EnsemblGeneIds (GRCh38): ENSG00000147251
EnsemblGeneIds (GRCh37): ENSG00000147251
OMIM: 300681, Gene2Phenotype
DOCK11 is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Autoimmune disease with immune dysregulation, X-linked (ADMIDX), MIM#301109

Peter McNaughton (Queensland Children's Hospital)

12 patients across 2 studies described. Severe gastrointestinal disease was observed in most of the patients, manifested as ulcerative colitis-like or Crohn's disease-like inflammatory bowel disease, unspecified ileitis, and colitis. Oral and anal ulcerations or ileus affected 6 of the patients.
Sources: Literature
Created: 16 Aug 2023, 10:32 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Inflammatory bowel disease

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Autoimmune disease with immune dysregulation, X-linked (ADMIDX), MIM#301109
  • Inflammatory bowel disease
OMIM
300681
Clinvar variants
Variants in DOCK11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Aug 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dock11 has been classified as Green List (High Evidence).

17 Aug 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DOCK11 were changed from Inflammatory bowel disease to Autoimmune disease with immune dysregulation, X-linked (ADMIDX), MIM#301109; Inflammatory bowel disease

17 Aug 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dock11 has been classified as Green List (High Evidence).

16 Aug 2023, Gel status: 0

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

Peter McNaughton (Queensland Children's Hospital)

gene: DOCK11 was added gene: DOCK11 was added to Inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: DOCK11 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: DOCK11 were set to PMID: 37342957; PMID: 36952639 Phenotypes for gene: DOCK11 were set to Inflammatory bowel disease