Ectodermal dysplasia without a known gene mutation
Gene: KRT85
Phenotypes
Ectodermal dysplasia, pure hair and nail type
Comment on mode of inheritance: Source: publications and OMIM.Created: 25 Jul 2016, 9:21 a.m.
Comment on list classification: Promoted from red to green due to expert review and 3 family reports.Created: 25 Jul 2016, 9:21 a.m.
Promoted to version 1 10th August 2016
This gene has been classified as Green List (High Evidence).
Mode of inheritance for KRT85 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Publications for KRT85 were set to 16525032 (a homozygous variant identified in a large kindred of Pakistani origin); 19865094 (2 different homozygous variants reported in two consanguineous Pakistani families - one variant was the same as identified in PMID:16525032).
Publications for KRT85 were set to 16525032 (a homozygous variant identified in a large kindred of Pakistani origin); 19865094 (2 different homozygous variants reported in two consanguineous Pakistani families).
Phenotypes for KRT85 were set to Ectodermal dysplasia 4, hair/nail type, 602032; Ectodermal dysplasia, pure hair and nail type
KRT85 was added to Ectodermal dysplasia without a known gene mutationpanel. Sources: Radboud University Medical Center, Nijmegen