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Hearing loss

Gene: PLS1

Amber List (moderate evidence)

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

2 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Promoting this gene from grey to amber with a recommendation of green rating at the next GMS review.
Created: 18 Nov 2020, 6:13 p.m. | Last Modified: 18 Nov 2020, 6:13 p.m.
Panel Version: 2.109
Associated with Deafness, autosomal dominant 76 #618787 (AD) in OMIM

5 cases plus mouse model

PMID:31397523 - Morgan et al 2019 - report 3 unrelated families of European ancestry with autosomal dominant NSHL in which they identify causal variants in PLS1 (c.805G>A, p.[E269K]; c.713G>T, p.[L238R], and c.383T>C, p.[F128S]) using NGS.

PMID:31432506 - Diaz-Horta et al 2019 - report a Turkish family with autosomal dominant non-syndromic HL and a PLS1 missense variant, c.805G > A (p.E269K) in 5 affected individuals from 3 generations. WES was used.

PMID:30872814 - Schrauwen et al 2019 - report a Hungarian Roma family with autosomal dominant non-syndromic HI segregating a rare variant in PLS1 [p.(Leu363Phe)]. They also report that young adult Pls1 knockout mice have progressive HI and show morphological defects to their inner hair cells.
Created: 18 Nov 2020, 6:11 p.m. | Last Modified: 18 Nov 2020, 6:11 p.m.
Panel Version: 2.108

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Deafness, autosomal dominant 76 OMIM:618787; deafness, autosomal dominant 76 MONDO:0032917

Publications

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
  • Expert Review Amber
Phenotypes
  • Deafness, autosomal dominant 76 OMIM:618787
  • deafness, autosomal dominant 76 MONDO:0032917
Tags
for-review
OMIM
602734
Clinvar variants
Variants in PLS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Nov 2020, Gel status: 2

Added Tag

Eleanor Williams (Genomics England Curator)

Tag for-review tag was added to gene: PLS1.

18 Nov 2020, Gel status: 2

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: PLS1 were changed from Deafness to Deafness, autosomal dominant 76 OMIM:618787; deafness, autosomal dominant 76 MONDO:0032917

18 Nov 2020, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: pls1 has been classified as Amber List (Moderate Evidence).

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