Ectodermal dysplasia
Gene: KREMEN1Comment on list classification: Changed rating to Amber as additional family with ED identified in literature by external reviewer.Created: 12 May 2020, 8:36 a.m. | Last Modified: 12 May 2020, 8:36 a.m.
Panel Version: 1.6
Additional family reported.Created: 12 Mar 2020, 3:11 a.m. | Last Modified: 12 Mar 2020, 3:11 a.m.
Panel Version: 1.4
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ectodermal dysplasia 13, hair/tooth type, 617392
Publications
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
Phenotypes
Ectodermal dysplasia 13, hair/tooth type, 617392
Publications
Gene: kremen1 has been classified as Amber List (Moderate Evidence).
Publications for gene: KREMEN1 were set to 27049303
gene: KREMEN1 was added gene: KREMEN1 was added to Ectodermal dysplasia. Sources: Expert Review Red Mode of inheritance for gene: KREMEN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KREMEN1 were set to 27049303 Phenotypes for gene: KREMEN1 were set to Ectodermal dysplasia 13, hair/tooth type, 617392