ANO1

anoctamin 1
OMIM: 610108, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber ANO1 in Congenital Diarrhoea


Level 2: Gastroenterological disorders
Version 1.13

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intestinal dysmotility syndrome, MIM# 620045
  • Impaired intestinal peristalsis
  • haemorrhagic diarrhoea
  • dysmorphic features

Amber ANO1 in Mendeliome


Version 1.1902

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intestinal dysmotility syndrome, MIM# 620045
  • Moyamoya disease 7, MIM# 620687

Amber ANO1 in Stroke


Level 2: Neurology and neurodevelopmental disorders
Version 1.16

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Moyamoya disease 7, MIM# 620687

Amber ANO1 in Cerebral vascular malformations


Level 2: Neurology and neurodevelopmental disorders
Version 0.39

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Moyamoya disease 7, MIM# 620687