Ectodermal dysplasia

Gene: DSP

Red List (low evidence)

DSP (desmoplakin)
EnsemblGeneIds (GRCh38): ENSG00000096696
EnsemblGeneIds (GRCh37): ENSG00000096696
OMIM: 125647, Gene2Phenotype
DSP is in 16 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Please note the suggested mode of inheritance under John McGrath's evaluation was automatically transferred from the original sources and was not provided in his review.
Created: 19 Nov 2015, 3:17 p.m.

John McGrath (King's College London)

Red List (low evidence)

Not really an ED
Created: 19 Nov 2015, 3:06 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

History Filter Activity

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: DSP was added gene: DSP was added to Ectodermal dysplasia. Sources: Expert Review Red Mode of inheritance for gene: DSP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DSP were set to Ectodermal Dysplasia/Skin Fragility Syndrome