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  3. KDSR
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Epidermolysis bullosa

Gene: KDSR

Red List (low evidence)
KDSR (3-ketodihydrosphingosine reductase)
EnsemblGeneIds (GRCh38): ENSG00000119537
EnsemblGeneIds (GRCh37): ENSG00000119537
OMIM: 136440, Gene2Phenotype
KDSR is in 6 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

No reported evidence that epidermolysis bullosa specifically is associated with this gene. The gene appears to be better suited to the Palmoplantar Keratoderma and Erythrokeratoderma panel.
Created: 28 Jan 2020, 6:29 a.m. | Last Modified: 28 Jan 2020, 6:31 a.m.
Panel Version: 0.6

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Erythrokeratodermia variabilis et progressiva 4 MIM#617526

Created: 28 Jan 2020, 6:29 a.m.
Last Modified: 28 Jan 2020, 6:31 a.m.
Panel version: 0.6

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Erythrokeratodermia variabilis et progressiva 4 MIM#617526
OMIM
136440
Clinvar variants
Variants in KDSR
Penetrance
None
Panels with this gene

History Filter Activity

28 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kdsr has been classified as Red List (Low Evidence).

28 Jan 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KDSR were changed from Erythrokeratodermia variabilis et progressiva 4 MIM#617526 to Erythrokeratodermia variabilis et progressiva 4 MIM#617526

28 Jan 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KDSR were changed from to Erythrokeratodermia variabilis et progressiva 4 MIM#617526

28 Jan 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KDSR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

28 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kdsr has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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