Inflammatory bowel disease
Gene: DOCK11EnsemblGeneIds (GRCh38): ENSG00000147251
EnsemblGeneIds (GRCh37): ENSG00000147251
OMIM: 300681, Gene2Phenotype
DOCK11 is in 3 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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: LiteratureCreated: 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dock11 has been classified as Green List (High Evidence).
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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dock11 has been classified as Green List (High Evidence).
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