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  3. TGM5
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Ichthyosis and erythrokeratoderma

Gene: TGM5

Green List (high evidence)
TGM5 (transglutaminase 5)
EnsemblGeneIds (GRCh38): ENSG00000104055
EnsemblGeneIds (GRCh37): ENSG00000104055
OMIM: 603805, Gene2Phenotype
TGM5 is in 5 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 5 Dec 2024, 10:34 p.m. | Last Modified: 5 Dec 2024, 10:34 p.m.
Panel Version: 3.30

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 5 Dec 2024, 10:34 p.m.
Last Modified: 5 Dec 2024, 10:34 p.m.
Panel version: 3.30

Arina Puzriakova (Genomics England Curator)

Comment 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
Created: 31 Oct 2023, 4:51 p.m.
Last Modified: 31 Oct 2023, 4:51 p.m.
Panel version: 3.14

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Recommend all peeling skin syndrome genes should be on R165 & R166
Sources: Expert list
Created: 5 May 2023, 3:17 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peeling skin syndrome 2

Publications

Created: 5 May 2023, 3:17 p.m.

Panel version: 3.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Peeling skin syndrome 2, OMIM:609796
OMIM
603805
Clinvar variants
Variants in TGM5
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

5 Dec 2024, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_23_promote_green was removed from gene: TGM5. Tag Q4_23_NHS_review was removed from gene: TGM5.

5 Dec 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to TGM5. Source NHS GMS was added to TGM5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 Oct 2023, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: TGM5 were set to PubMed: 16380904; 19440220; 20164844; 22036214

31 Oct 2023, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: TGM5 were changed from Peeling skin syndrome 2 to Peeling skin syndrome 2, OMIM:609796

31 Oct 2023, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: tgm5 has been classified as Amber List (Moderate Evidence).

31 Oct 2023, Gel status: 0

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q4_23_promote_green tag was added to gene: TGM5. Tag Q4_23_NHS_review tag was added to gene: TGM5.

5 May 2023, Gel status: 0

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

Tom Cullup (Great Ormond Street Hospital)

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