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  2. Ectodermal dysplasia
  3. TGM1
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Ectodermal dysplasia

Gene: TGM1

Red List (low evidence)
TGM1 (transglutaminase 1)
EnsemblGeneIds (GRCh38): ENSG00000092295
EnsemblGeneIds (GRCh37): ENSG00000092295
OMIM: 190195, Gene2Phenotype
TGM1 is in 6 panels

1 review

Rebecca Foulger (Genomics England curator)

Comment on list classification: Kept rating as Red: Although some people affected with autosomal recessive congenital ichthyosis (ARCI) may exhibit cicatricial (scarring) alopecia, there is no direct evidence for the role of TGM1.
Created: 13 Jul 2017, 2:20 p.m.
Created: 13 Jul 2017, 2:20 p.m.

Panel version: Imported from Familial cicatricial alopecia panel version 0.34

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Some affected persons exhibit scarring alopecia
  • Lamellar ichthyosis
  • Ichthyosis, congenital, autosomal recessive 1, 242300
OMIM
190195
Clinvar variants
Variants in TGM1
Penetrance
None
Panels with this gene

History Filter Activity

3 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: TGM1 was added gene: TGM1 was added to Ectodermal dysplasia. Sources: Expert Review Red Mode of inheritance for gene: TGM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TGM1 were set to Some affected persons exhibit scarring alopecia; Lamellar ichthyosis; Ichthyosis, congenital, autosomal recessive 1, 242300