Hair disorders
Gene: KREMEN1EnsemblGeneIds (GRCh38): ENSG00000183762
EnsemblGeneIds (GRCh37): ENSG00000183762
OMIM: 609898, Gene2Phenotype
KREMEN1 is in 3 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
4 consanguineous Palestinian families segregating the same homozygous missense (Phe209Ser) with disease phenotype which includes hair abnormalities. Possible founder variant. There are also animal model functional assays that suggest the gene is involved in hair development.
Sources: Expert listCreated: 31 Jul 2020, 12:31 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ectodermal dysplasia 13, hair/tooth type MIM#617392
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Ectodermal dysplasia 13, hair/tooth type MIM#617392
- OMIM
- 609898
- Clinvar variants
- Variants in KREMEN1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: kremen1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: kremen1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: KREMEN1 was added gene: KREMEN1 was added to Hair disorders. Sources: Expert list Mode of inheritance for gene: KREMEN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KREMEN1 were set to 27049303; 27550540 Phenotypes for gene: KREMEN1 were set to Ectodermal dysplasia 13, hair/tooth type MIM#617392 Review for gene: KREMEN1 was set to AMBER