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  3. DSG4
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Desmosomal disorders

Gene: DSG4

Green List (high evidence)
DSG4 (desmoglein 4)
EnsemblGeneIds (GRCh38): ENSG00000175065
EnsemblGeneIds (GRCh37): ENSG00000175065
OMIM: 607892, Gene2Phenotype
DSG4 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple families reported, desmosomal protein.
Created: 1 Jun 2022, 9:22 a.m. | Last Modified: 1 Jun 2022, 9:22 a.m.
Panel Version: 0.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypotrichosis 6, MIM#607903

Publications

Created: 1 Jun 2022, 9:22 a.m.
Last Modified: 1 Jun 2022, 9:22 a.m.
Panel version: 0.25

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypotrichosis 6, MIM#607903
OMIM
607892
Clinvar variants
Variants in DSG4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Jun 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dsg4 has been classified as Green List (High Evidence).

1 Jun 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DSG4 were changed from to Hypotrichosis 6, MIM#607903

1 Jun 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DSG4 were set to

1 Jun 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DSG4 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: DSG4 was added gene: DSG4 was added to Desmosomal disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DSG4 was set to Unknown