ANO1:Ensemblv90

anoctamin 1
OMIM: 610108, ClinGen, DECIPHER

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Amber ANO1 in Congenital Diarrhoea Level 2: Gastroenterological disorders Version 1.30	1 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 1.3802	2 reviews	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 1.38	4 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Literature Phenotypes Moyamoya disease 7, MIM# 620687
Amber ANO1 in Cerebral vascular malformations Level 2: Neurology and neurodevelopmental disorders Version 1.9 Component of the following Super Panels: Progressive Neurological Conditions Vascular Malformations SuperPanel	5 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Literature Phenotypes Moyamoya disease 7, MIM# 620687
Amber ANO1 in Congenital Diarrhoea Level 2: Gastroenterological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Amber Phenotypes Intestinal dysmotility syndrome, MIM# 620045 Impaired intestinal peristalsis haemorrhagic diarrhoea dysmorphic features
Amber ANO1 in Cerebral vascular malformations Level 2: Neurology and neurodevelopmental disorders Version 2.0	5 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Literature Expert Review Amber Phenotypes Moyamoya disease 7, MIM# 620687