Hair disorders
Gene: KRT25
KRT25 (keratin 25)
EnsemblGeneIds (GRCh38): ENSG00000204897
EnsemblGeneIds (GRCh37): ENSG00000204897
OMIM: 616646, Gene2Phenotype
KRT25 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000204897
EnsemblGeneIds (GRCh37): ENSG00000204897
OMIM: 616646, Gene2Phenotype
KRT25 is in 2 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
4 unrelated families homozygous for 2 different missense variants and a single family segregating a heterozygous missense variant, with supporting in vitro functional assays. There is also supporting animal models.
Sources: Expert listCreated: 30 Jul 2020, 6:32 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Woolly hair, autosomal recessive 3 MIM#616760
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Woolly hair, autosomal recessive 3 MIM#616760
- OMIM
- 616646
- Clinvar variants
- Variants in KRT25
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
30 Jul 2020, Gel status: 3
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: krt25 has been classified as Green List (High Evidence).
30 Jul 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: KRT25 was added gene: KRT25 was added to Hair disorders. Sources: Expert list Mode of inheritance for gene: KRT25 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: KRT25 were set to 26160856; 26902920; 29686323; 28899683 Phenotypes for gene: KRT25 were set to Woolly hair, autosomal recessive 3 MIM#616760 Review for gene: KRT25 was set to GREEN