ANO1

anoctamin 1
OMIM: 610108, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Amber ANO1 in Infantile enterocolitis & monogenic inflammatory bowel disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.45

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Impaired intestinal peristalsis
  • Haemorrhagic diarrhoea
  • Dysmorphic features
Amber ANO1 in Gastrointestinal epithelial barrier disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.76

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Impaired intestinal peristalsis
  • haemorrhagic diarrhoea
  • dysmorphic features
Green ANO1 in Cerebral vascular malformations


Level 2: Neurology
Version 4.10
Latest signed off version: v4.0 (30 Apr 2025)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Moyamoya disease 7, OMIM:620687
  • moyamoya disease 7, MONDO:0958202
Amber ANO1 in Intestinal failure or congenital diarrhoea


Level 2: Gastrohepatology
Version 3.7
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Impaired intestinal peristalsis
  • Haemorrhagic diarrhoea
  • Dysmorphic features
Red ANO1 in DDG2P


Version 6.438
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • ANO1-associated intestinal disease