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Ectodermal dysplasia

Gene: DSG4

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

2 reviews

Rebecca Foulger (Genomics England curator)

Added 'deletions' tag based on PMID:15304105 (Moss et al., 2004) who studied a family of Pakistani origin with two siblings affected with LAH (OMIM:607903). The two affected children, a 5 year old girl and 18 month boy, have two sisters with normal hair. Their parents, first cousins of Pakistani origin, are unaffected. Sequence analysis of DSG4 revealed a homozygous deletion encompassing exons 5 through 8 in the two affected individuals leading to an internally truncated protein. Other deletions are recorded in OMIM:607903 for DSG4.
Created: 24 Jan 2017, 4:15 p.m.
Comment on mode of inheritance: Biallelic mode of inheritance is confirmed by OMIM: All reports for Hypotrichosis (OMIM:607903) identify homozygous or compound heterozygous DSG4 mutations. PMID:15304105 (Moss et al., 2004) also identify a homozgyous deletion.
Created: 24 Jan 2017, 4:12 p.m.
Comment on list classification: Updated rating from Amber to Green: Not yet a confirmed DDG2P gene for hypotrichosis, but 1 Green review plus >3 cases of DSG4 mutations causing Hypotrichosis (OMIM:607903) in a mix of populations.
Created: 23 Jan 2017, 3:43 p.m.
Created: 24 Jan 2017, 4:15 p.m.

Panel version: Imported from Non-syndromic hypotrichosis panel version 0.37

Celia Moss (Birmingham Children's Hospital)

Green List (high evidence)

Well established.
Created: 21 Jan 2017, 11:29 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypotrichosis with broken hairs and follicular hyperkeratosis; variable severity and extent

Publications

Created: 21 Jan 2017, 11:29 a.m.

Panel version: Imported from Non-syndromic hypotrichosis panel version 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • HYPT6
  • localized autosomal recessive hypotrichosis-1 (LAH1)
  • Hypotrichosis with broken hairs and follicular hyperkeratosis (variable severity and extent)
  • Autosomal recessive hypotrichosis
  • Hereditary hypotrichosis simplex (HHS)
  • Localized AR Hypotrichosis
  • localized autosomal recessive hypotrichosis
  • Hypotrichosis 6, 607903
  • Hypotrichosis simplex (HS)
OMIM
607892
Clinvar variants
Variants in DSG4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: DSG4 was added gene: DSG4 was added to Ectodermal dysplasia. Sources: Expert Review Green Mode of inheritance for gene: DSG4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DSG4 were set to 15304105 Phenotypes for gene: DSG4 were set to HYPT6; localized autosomal recessive hypotrichosis-1 (LAH1); Hypotrichosis with broken hairs and follicular hyperkeratosis (variable severity and extent); Autosomal recessive hypotrichosis; Hereditary hypotrichosis simplex (HHS); Localized AR Hypotrichosis; localized autosomal recessive hypotrichosis; Hypotrichosis 6, 607903; Hypotrichosis simplex (HS)