Ichthyosis and erythrokeratoderma
Gene: TGM5Comment on list classification: New gene added by Tom Cullup (GOSH). Based on the recommendation by the specialist team that all genes causing peeling skin syndrome should be included on this panel, and that there is sufficient evidence of a gene:disease association, this gene should be promoted to Green at the next GMS review.Created: 31 Oct 2023, 4:51 p.m. | Last Modified: 31 Oct 2023, 4:51 p.m.
Panel Version: 3.14
Recommend all peeling skin syndrome genes should be on R165 & R166
Sources: Expert listCreated: 5 May 2023, 3:17 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peeling skin syndrome 2
Publications
Publications for gene: TGM5 were set to PubMed: 16380904; 19440220; 20164844; 22036214
Phenotypes for gene: TGM5 were changed from Peeling skin syndrome 2 to Peeling skin syndrome 2, OMIM:609796
Gene: tgm5 has been classified as Amber List (Moderate Evidence).
Tag Q4_23_promote_green tag was added to gene: TGM5. Tag Q4_23_NHS_review tag was added to gene: TGM5.
gene: TGM5 was added gene: TGM5 was added to Ichthyosis and erythrokeratoderma. Sources: Expert list Mode of inheritance for gene: TGM5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TGM5 were set to PubMed: 16380904; 19440220; 20164844; 22036214 Phenotypes for gene: TGM5 were set to Peeling skin syndrome 2 Penetrance for gene: TGM5 were set to unknown Review for gene: TGM5 was set to GREEN