Monogenic hearing loss
Gene: PLS1
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 1:19 p.m. | Last Modified: 3 Mar 2022, 1:19 p.m.
Panel Version: 2.221
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
non-syndromic deafness in 5 families with mono-allelic variants in this gene, and a mouse model.
Sources: Expert listCreated: 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
Phenotypes for gene: PLS1 were changed from Deafness, autosomal dominant 76 OMIM:618787; deafness, autosomal dominant 76 MONDO:0032917 to Deafness, autosomal dominant 76, OMIM:618787; deafness, autosomal dominant 76, MONDO:0032917
Tag for-review was removed from gene: PLS1.
Source Expert Review Green was added to PLS1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag for-review tag was added to gene: PLS1.
Phenotypes for gene: PLS1 were changed from Deafness to Deafness, autosomal dominant 76 OMIM:618787; deafness, autosomal dominant 76 MONDO:0032917
Gene: pls1 has been classified as Amber List (Moderate Evidence).
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