Hair disorders
Gene: TCHHEnsemblGeneIds (GRCh38): ENSG00000159450
EnsemblGeneIds (GRCh37): ENSG00000159450
OMIM: 190370, Gene2Phenotype
TCHH is in 2 panels
2 reviews
Naomi Baker (Victorian Clinical Genetics Services)
Very weak mendelian gene-disease association. Single case reported of a female with UHS with a homozygous nonsense variant, no functional assays performed (PMID: 27866708).Created: 25 Nov 2020, 1:14 a.m. | Last Modified: 25 Nov 2020, 1:14 a.m.
Panel Version: 0.5422
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Uncombable hair syndrome 3 MIM#617252
Publications
- PMID: 27866708
Bryony Thompson (Royal Melbourne Hospital)
Single case reported with a homozygous variant, no functional assays performed.Created: 29 Jul 2020, 1:46 a.m. | Last Modified: 29 Jul 2020, 1:46 a.m.
Panel Version: 0.11
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Uncombable hair syndrome 3 MIM#617252
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- ?Uncombable hair syndrome 3, 617252
- OMIM
- 190370
- Clinvar variants
- Variants in TCHH
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: tchh has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: TCHH was added gene: TCHH was added to Hair disorders. Sources: Expert Review Red,Literature Mode of inheritance for gene: TCHH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TCHH were set to 31332722 Phenotypes for gene: TCHH were set to ?Uncombable hair syndrome 3, 617252