ANO1

anoctamin 1
OMIM: 610108, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Red ANO1 in Genomic imprinting


Version 0.149

review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Literature
Amber ANO1 in Infantile enterocolitis & monogenic inflammatory bowel disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.44

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 1.75

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Impaired intestinal peristalsis
  • haemorrhagic diarrhoea
  • dysmorphic features
Amber ANO1 in Intestinal failure or congenital diarrhoea


Version 3.3
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 4.5
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

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