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Hearing loss

Gene: SPATC1L

No list

SPATC1L (spermatogenesis and centriole associated 1 like)
EnsemblGeneIds (GRCh38): ENSG00000160284
EnsemblGeneIds (GRCh37): ENSG00000160284
OMIM: 612412, Gene2Phenotype
SPATC1L is in 1 panel

1 review

Zornitza Stark (Australian Genomics)

Two families with compound het variants, and one family with heterozygous variant and dominant pattern of inheritance described, some functional data.
Sources: Expert list
Created: 2 Jan 2020, 5:28 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Deafness

Publications

Details

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

History Filter Activity

2 Jan 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: SPATC1L was added gene: SPATC1L was added to Hearing loss. Sources: 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