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  2. Epidermolysis bullosa
  3. TGM5
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Epidermolysis bullosa

Gene: TGM5

Green List (high evidence)
TGM5 (transglutaminase 5)
EnsemblGeneIds (GRCh38): ENSG00000104055
EnsemblGeneIds (GRCh37): ENSG00000104055
OMIM: 603805, Gene2Phenotype
TGM5 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peeling skin syndrome 2, MIM# 609796

Publications

Created: 7 Feb 2020, 6:07 a.m.
Last Modified: 7 Feb 2020, 6:07 a.m.
Panel version: 0.16

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Peeling skin syndrome 2, MIM# 609796
OMIM
603805
Clinvar variants
Variants in TGM5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tgm5 has been classified as Green List (High Evidence).

7 Feb 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

7 Feb 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TGM5 were set to

7 Feb 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TGM5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TGM5 was added gene: TGM5 was added to Epidermolysis bullosa_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TGM5 was set to Unknown