Hair 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

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Multiple families reported
Created: 9 May 2022, 11:22 a.m. | Last Modified: 9 May 2022, 11:22 a.m.
Panel Version: 0.13991

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypotrichosis 6 - MIM#607903

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hypotrichosis 6, 607903
OMIM
607892
Clinvar variants
Variants in DSG4
Penetrance
None
Panels with this gene

History Filter Activity

28 Jul 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: DSG4 was added gene: DSG4 was added to Hair disorders. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: DSG4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DSG4 were set to Hypotrichosis 6, 607903