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Hearing loss

Gene: SCD5

Red List (low evidence)

SCD5 (stearoyl-CoA desaturase 5)
EnsemblGeneIds (GRCh38): ENSG00000145284
EnsemblGeneIds (GRCh37): ENSG00000145284
OMIM: 608370, Gene2Phenotype
SCD5 is in 1 panel

2 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: Changing rating from grey to red. As outlined by the reviewer, one large Chinese family with autosomal dominant non syndromic hearing loss reported, in which a missense variant in the SCD5 gene (c.626G > C, p.W209S, NM_ 001037582) segregated perfectly cases with hearing loss.
Created: 21 Dec 2020, 6:06 p.m. | Last Modified: 21 Dec 2020, 6:06 p.m.
Panel Version: 2.138

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Single 5-generation family reported with a missense variant segregating in 19 affected individuals. Variant is found at a low frequency in ExAC.
Sources: Literature
Created: 9 Dec 2020, 5:54 a.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
Phenotypes
  • Deafness, autosomal dominant 79 OMIM:619086
  • deafness, autosomal dominant 79 MONDO:0033668
OMIM
608370
Clinvar variants
Variants in SCD5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Dec 2020, Gel status: 1

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: scd5 has been classified as Red List (Low Evidence).

21 Dec 2020, Gel status: 0

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: SCD5 were changed from Deafness, autosomal dominant 79, MIM#619086 to Deafness, autosomal dominant 79 OMIM:619086; deafness, autosomal dominant 79 MONDO:0033668

9 Dec 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: SCD5 was added gene: SCD5 was added to Hearing loss. Sources: Literature 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