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  2. Deafness_Isolated
  3. SPATC1L
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Deafness_Isolated

Gene: SPATC1L

Amber List (moderate evidence)
SPATC1L (spermatogenesis and centriole associated 1 like)
EnsemblGeneIds (GRCh38): ENSG00000160284
EnsemblGeneIds (GRCh37): ENSG00000160284
OMIM: 612412, Gene2Phenotype
SPATC1L is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two families with compound het variants, and one family with heterozygous variant and dominant pattern of hearing loss described, some functional data.
Sources: Expert list
Created: 2 Jan 2020, 2:59 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Deafness

Publications

Created: 2 Jan 2020, 2:59 a.m.

Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.181

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
  • Expert list
Phenotypes
  • Deafness
OMIM
612412
Clinvar variants
Variants in SPATC1L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: spatc1l has been classified as Amber List (Moderate Evidence).

21 Jul 2020, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SPATC1L was added gene: SPATC1L was added to DeafnessIsolated. Sources: Expert Review Amber,Expert list Mode of inheritance for gene: SPATC1L was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SPATC1L were set to 30177775 Phenotypes for gene: SPATC1L were set to Deafness