Palmoplantar Keratoderma and Erythrokeratoderma
Gene: TGM1EnsemblGeneIds (GRCh38): ENSG00000092295
EnsemblGeneIds (GRCh37): ENSG00000092295
OMIM: 190195, Gene2Phenotype
TGM1 is in 8 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
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
Sources: LiteratureCreated: 17 Aug 2020, 4:32 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ichthyosis, congenital, autosomal recessive 1 (MIM#242300)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Ichthyosis, congenital, autosomal recessive 1 (MIM#242300)
- OMIM
- 190195
- Clinvar variants
- Variants in TGM1
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tgm1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tgm1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Ain Roesley (Victorian Clinical Genetics Services)gene: TGM1 was added gene: TGM1 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature Mode of inheritance for gene: TGM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TGM1 were set to 19890349; 24261627; 30302839 Phenotypes for gene: TGM1 were set to Ichthyosis, congenital, autosomal recessive 1 (MIM#242300) Penetrance for gene: TGM1 were set to unknown Review for gene: TGM1 was set to GREEN