Ectodermal dysplasia without a known gene mutation
Gene: KRT74Comment on mode of inheritance: Updated from biallelic to monoallelic inline with MOI on equivalent GMS panel (R163 Ectodermal dysplasia v3.0).
"This gene is Green on the Non-syndromic hypotrichosis panel (version 1.1, code 189) with a monoallelic mode of inheritance for Hypotrichosis. It has a Red rating with a biallelic mode of inheritance on the Ectodermal dysplasia without a known gene mutation panel (version 1.15, code 136), for Ectodermal dysplasia 7 due to one family report (PMID: 24714551). Therefore for the Green status, a monoallelic mode of inheritance is given here."Created: 24 Jan 2024, 11:14 a.m. | Last Modified: 24 Jan 2024, 11:14 a.m.
Panel Version: 1.25
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Only one variant reported in Ectodermal dysplasia 7, hair/nail type 614929Created: 10 Aug 2016, 9:22 a.m.
Comment on phenotypes: Also associated with Hypotrichosis 3 613981 and Woolly hair, autosomal dominant 194300Created: 10 Aug 2016, 9:21 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pure hair and nail ectodermal dysplasia (PHNED)
Publications
Phenotypes for gene: KRT74 were changed from Pure hair and nail ectodermal dysplasia (PHNED) Ectodermal dysplasia 7, hair/nail type 614929 to Woolly hair, autosomal dominant, OMIM:194300 (AD); ?Hypotrichosis 3, OMIM:613981 (AD); ?Ectodermal dysplasia 7, hair/nail type, OMIM:614929 (AR)
Gene: krt74 has been classified as Green List (High Evidence).
Mode of inheritance for gene: KRT74 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Promoted to version 1 10th August 2016
This gene has been classified as Red List (Low Evidence).
Phenotypes for KRT74 were set to Pure hair and nail ectodermal dysplasia (PHNED) Ectodermal dysplasia 7, hair/nail type 614929
Phenotypes for KRT74 were set to Ectodermal dysplasia 7, hair/nail type 614929
KRT74 was added to Ectodermal dysplasia without a known gene mutationpanel. Sources: Radboud University Medical Center, Nijmegen
KRT74 was created by ellenmcdonagh
KRT74 was added to Ectodermal dysplasia without a known gene mutationpanel. Sources: Literature