Intestinal failure or congenital diarrhoeaGene: ANO1
Comment on list classification: Rating Amber, awaiting further cases and review of phenotype associated with variants in this gene.
Created: 25 Aug 2020, 3:38 p.m. | Last Modified: 25 Aug 2020, 3:38 p.m.
Panel Version: 1.5
PMID: 32487539 (2020) - Two affected sibs presenting in early infancy with impaired intestinal peristalsis, intestinal pneumatosis and dysmorphic features. Delayed motor and language development was reported in one sibling, however, the other sibling died at 5 months from cardiac arrest and therefore a psychomotor assessment was not performed. Exome sequencing identified a homozygous truncating variant (c.897+3_897+6delAAGT, p.L300Vfs*58) in ANO1 which segregated with disease in the family. Functional data revealed that the variant led to lack of expression of functional TMEM16A in patient cells, which in turn abolished calcium-activated Cl- currents. Also supportive mouse model.
Created: 25 Aug 2020, 3:35 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Impaired intestinal peristalsis; Haemorrhagic diarrhoea; Dysmorphic features
Gene: ano1 has been classified as Amber List (Moderate Evidence).
gene: ANO1 was added gene: ANO1 was added to Intestinal failure. Sources: Literature Mode of inheritance for gene: ANO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ANO1 were set to 32487539 Phenotypes for gene: ANO1 were set to Impaired intestinal peristalsis; Haemorrhagic diarrhoea; Dysmorphic features Review for gene: ANO1 was set to AMBER