Ectodermal dysplasia without a known gene mutationGene: KREMEN1
Comment on list classification: Kept rating as red until more (unrelated) cases are reported.
Created: 11 May 2017, 2:06 p.m.
In affected individuals from 4 consanguineous Palestinian families with ectodermal dysplasia of the hair/tooth type (MIM:617392), Issa et al. (2016, PMID:27049303) identified homozygosity for a c.626T-C transition in the KREMEN1 gene, resulting in a F209S substitution.
Created: 11 May 2017, 2:04 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Ectodermal dysplasia 13, hair/tooth type, 617392
This gene has been classified as Red List (Low Evidence).
KREMEN1 was added to Ectodermal dysplasia without a known gene mutationpanel. Sources: Other
KREMEN1 was created by rfoulger