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Hearing loss

Gene: PLS1

No list

PLS1 (plastin 1)
EnsemblGeneIds (GRCh38): ENSG00000120756
EnsemblGeneIds (GRCh37): ENSG00000120756
OMIM: 602734, Gene2Phenotype
PLS1 is in 1 panel

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

non-syndromic deafness in 5 families with mono-allelic variants in this gene, and a mouse model.
Sources: Expert list
Created: 2 Jan 2020, 5:13 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Deafness

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Deafness
OMIM
602734
Clinvar variants
Variants in PLS1
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: PLS1 was added gene: PLS1 was added to Hearing loss. Sources: Expert list Mode of inheritance for gene: PLS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PLS1 were set to 31397523; 31432506; 30872814 Phenotypes for gene: PLS1 were set to Deafness Review for gene: PLS1 was set to GREEN gene: PLS1 was marked as current diagnostic