Monogenic hearing loss
Gene: PLS1EnsemblGeneIds (GRCh38): ENSG00000120756
EnsemblGeneIds (GRCh37): ENSG00000120756
OMIM: 602734, Gene2Phenotype
PLS1 is in 1 panel
2 reviews
Eleanor Williams (Genomics England Curator)
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
Zornitza Stark (Australian Genomics)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Deafness, autosomal dominant 76, OMIM:618787
- deafness, autosomal dominant 76, MONDO:0032917
- OMIM
- 602734
- Clinvar variants
- Variants in PLS1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)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
Removed Tag
Eleanor Williams (Genomics England Curator)Tag for-review was removed from gene: PLS1.
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Green was added to PLS1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Eleanor Williams (Genomics England Curator)Tag for-review tag was added to gene: PLS1.
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
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: pls1 has been classified as Amber List (Moderate Evidence).
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