Ichthyosis
Gene: TGM1

TGM1 (transglutaminase 1)
EnsemblGeneIds (GRCh38): ENSG00000092295
EnsemblGeneIds (GRCh37): ENSG00000092295
OMIM: 190195, Gene2Phenotype
TGM1 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Ichthyosis and palmoplantar keratoderma. PMID: 19890349; - 1x patient with mild palmoplantar keratoderma in her fissures > cHet for c.877-2A>G and p.(Arg307Gly) PMID: 24261627; - 11x Ecuadorian patients - All showed ectropion, large, thick, dark, plate-like scales, palmoplantar keratoderma, and alopecia > both missense and PTVs reported PMID: 30302839; - 1x Japanese man with severe lamellar ichthyosis - his other clinical findings include palmoplantar keratoderma > cHet for 2 missense
Created: 17 Aug 2020, 9:19 a.m. | Last Modified: 17 Aug 2020, 9:19 a.m.

Panel Version: 0.92

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ichthyosis, congenital, autosomal recessive 1 (MIM#242300)

Publications

Created: 17 Aug 2020, 9:19 a.m.
Last Modified: 17 Aug 2020, 9:19 a.m.
Panel version: 0.92

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Ichthyosis, congenital, autosomal recessive 1 (MIM#242300)

OMIM

190195

Clinvar variants

Variants in TGM1

Penetrance

None

Publications

Panels with this gene