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DDG2P

Gene: DSG1

Amber List (moderate evidence)

DSG1 (desmoglein 1)
EnsemblGeneIds (GRCh38): ENSG00000134760
EnsemblGeneIds (GRCh37): ENSG00000134760
OMIM: 125670, Gene2Phenotype
DSG1 is in 6 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: probable.
Created: 19 Nov 2018, 11:29 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Amber
Phenotypes
  • SEVERE DERMATITIS, MULTIPLE ALLERGIES AND METABOLIC WASTING, 615508
OMIM
125670
Clinvar variants
Variants in DSG1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Oct 2019, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: DSG1 were changed from SEVERE DERMATITIS, MULTIPLE ALLERGIES AND METABOLIC WASTING to SEVERE DERMATITIS, MULTIPLE ALLERGIES AND METABOLIC WASTING, 615508

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: probabl

19 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: DSG1 was added gene: DSG1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: DSG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DSG1 were set to 23974871 Phenotypes for gene: DSG1 were set to SEVERE DERMATITIS, MULTIPLE ALLERGIES AND METABOLIC WASTING