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Hair disorders

Gene: TGM3

Amber List (moderate evidence)
TGM3 (transglutaminase 3)
EnsemblGeneIds (GRCh38): ENSG00000125780
EnsemblGeneIds (GRCh37): ENSG00000125780
OMIM: 600238, Gene2Phenotype
TGM3 is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

A single Turkish case with a homozygous truncating variant and a supporting null mouse model and other in vitro functional assays.
Created: 29 Jul 2020, 1:51 a.m. | Last Modified: 29 Jul 2020, 1:51 a.m.
Panel Version: 0.11

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Uncombable hair syndrome 2 MIM#617251

Publications

Created: 29 Jul 2020, 1:51 a.m.
Last Modified: 29 Jul 2020, 1:51 a.m.
Panel version: 0.11

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • ?Uncombable hair syndrome 2, 617251
OMIM
600238
Clinvar variants
Variants in TGM3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: tgm3 has been classified as Amber List (Moderate Evidence).

29 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: tgm3 has been classified as Amber List (Moderate 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: TGM3 was added gene: TGM3 was added to Hair disorders. Sources: Expert Review Red,Literature Mode of inheritance for gene: TGM3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TGM3 were set to 31332722 Phenotypes for gene: TGM3 were set to ?Uncombable hair syndrome 2, 617251