Deafness_IsolatedAndComplex
Gene: SCD5
SCD5 (stearoyl-CoA desaturase 5)
EnsemblGeneIds (GRCh38): ENSG00000145284
EnsemblGeneIds (GRCh37): ENSG00000145284
OMIM: 608370, Gene2Phenotype
SCD5 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000145284
EnsemblGeneIds (GRCh37): ENSG00000145284
OMIM: 608370, Gene2Phenotype
SCD5 is in 2 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Single 5-generation family reported with a missense variant segregating in 19 affected individuals. Variant is found at a low frequency in ExAC.
Sources: Expert listCreated: 10 Nov 2020, 9:19 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Deafness, autosomal dominant 79, MIM#619086
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- Deafness, autosomal dominant 79, MIM#619086
- OMIM
- 608370
- Clinvar variants
- Variants in SCD5
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
10 Nov 2020, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: scd5 has been classified as Red List (Low Evidence).
10 Nov 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SCD5 was added gene: SCD5 was added to Deafness_IsolatedAndComplex. Sources: Expert list Mode of inheritance for gene: SCD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SCD5 were set to 31972369 Phenotypes for gene: SCD5 were set to Deafness, autosomal dominant 79, MIM#619086 Review for gene: SCD5 was set to RED