Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name ANO1 gene ANO1 Expert Review Amber;Literature Intestinal failure or congenital diarrhoea BIALLELIC, autosomal or pseudoautosomal Impaired intestinal peristalsis;Haemorrhagic diarrhoea;Dysmorphic features 32487539 False 2 0;100;0 3.3 False ENSG00000131620 ENSG00000131620 HGNC:21625