Hair disorders

Gene: TCHH

Red List (low evidence)

TCHH (trichohyalin)
EnsemblGeneIds (GRCh38): ENSG00000159450
EnsemblGeneIds (GRCh37): ENSG00000159450
OMIM: 190370, Gene2Phenotype
TCHH is in 2 panels

2 reviews

Naomi Baker (Victorian Clinical Genetics Services)

Red List (low evidence)

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

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

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

29 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: tchh has been classified as Red List (Low Evidence).

28 Jul 2020, Gel status: 1

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