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Ectodermal dysplasia

Gene: KRT25

Green List (high evidence)
KRT25 (keratin 25)
EnsemblGeneIds (GRCh38): ENSG00000204897
EnsemblGeneIds (GRCh37): ENSG00000204897
OMIM: 616646, Gene2Phenotype
KRT25 is in 1 panel

1 review

Catherine Snow (Genomics England)

Green List (high evidence)

Comment on list classification: Reviewed by member of Genomics England clinical team, suggested Green rating. Appropriate gene to phenotype in OMIM and reported in >3 families.
Created: 2 Dec 2019, 4:20 p.m. | Last Modified: 2 Dec 2019, 4:20 p.m.
Panel Version: 0.28
This gene was part of a gene list collated by John McGrath, KCL and Veronica Kinsler, UCL, 17.Jun.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: KRT25; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 3 Sep 2019, 4:23 p.m. | Last Modified: 3 Sep 2019, 4:23 p.m.
Panel Version: 0.19
Created: 3 Sep 2019, 4:23 p.m.
Last Modified: 3 Sep 2019, 4:23 p.m.
Panel version: 0.31

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Woolly hair, autosomal recessive 3, 616760
OMIM
616646
Clinvar variants
Variants in KRT25
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Dec 2019, Gel status: 3

Set publications

Catherine Snow (Genomics England)

Publications for gene: KRT25 were set to

2 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: krt25 has been classified as Green List (High Evidence).

3 Sep 2019, Gel status: 2

Set Phenotypes

Catherine Snow (Genomics England)

Phenotypes for gene: KRT25 were changed from to Woolly hair, autosomal recessive 3, 616760

2 Sep 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Catherine Snow (Genomics England)

gene: KRT25 was added gene: KRT25 was added to Ectodermal dysplasia. Sources: Expert Review Amber Mode of inheritance for gene: KRT25 was set to BIALLELIC, autosomal or pseudoautosomal