1. Panels
  2. Epidermolysis bullosa
  3. DSP
STRs in panel
Prev Next
Regions in panel
Prev Next

Epidermolysis bullosa

Gene: DSP

Green List (high evidence)
DSP (desmoplakin)
EnsemblGeneIds (GRCh38): ENSG00000096696
EnsemblGeneIds (GRCh37): ENSG00000096696
OMIM: 125647, Gene2Phenotype
DSP is in 17 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 5 unrelated families reported.
Created: 12 Feb 2021, 10:11 a.m. | Last Modified: 12 Feb 2021, 10:11 a.m.
Panel Version: 0.47

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epidermolysis bullosa, lethal acantholytic, MIM# 609638

Publications

Created: 12 Feb 2021, 10:11 a.m.
Last Modified: 12 Feb 2021, 10:11 a.m.
Panel version: 0.47

History Filter Activity

12 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

12 Feb 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DSP were changed from to Epidermolysis bullosa, lethal acantholytic, MIM# 609638

12 Feb 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DSP were set to

12 Feb 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DSP 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: DSP was added gene: DSP was added to Epidermolysis bullosa_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DSP was set to Unknown