Deafness_IsolatedAndComplex
Gene: AP1B1
Four families reported with bi-allelic LoF variants in this gene.
Sources: LiteratureCreated: 31 Dec 2019, 4:16 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Keratitis-ichthyosis-deafness syndrome, autosomal recessive, MIM# 242150; Intellectual disability; enteropathy; deafness; peripheral neuropathy; ichthyosis; keratoderma
Publications
Phenotypes for gene: AP1B1 were changed from Intellectual disability; enteropathy; deafness; ichthyosis; keratoderma to Keratitis-ichthyosis-deafness syndrome, autosomal recessive, MIM# 242150; Intellectual disability; enteropathy; deafness; ichthyosis; keratoderma
Gene: ap1b1 has been classified as Green List (High Evidence).
Phenotypes for gene: AP1B1 were changed from Intellectual disability; enteropathy; deafness; peripheral neuropathy; ichthyosis; keratoderma to Intellectual disability; enteropathy; deafness; ichthyosis; keratoderma
Gene: ap1b1 has been classified as Green List (High Evidence).
gene: AP1B1 was added gene: AP1B1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Literature Mode of inheritance for gene: AP1B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP1B1 were set to 31630788; 31630791 Phenotypes for gene: AP1B1 were set to Intellectual disability; enteropathy; deafness; peripheral neuropathy; ichthyosis; keratoderma Review for gene: AP1B1 was set to GREEN