Deafness_Isolated
Gene: PLS1
PLS1 (plastin 1)
EnsemblGeneIds (GRCh38): ENSG00000120756
EnsemblGeneIds (GRCh37): ENSG00000120756
OMIM: 602734, Gene2Phenotype
PLS1 is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000120756
EnsemblGeneIds (GRCh37): ENSG00000120756
OMIM: 602734, Gene2Phenotype
PLS1 is in 4 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Non-syndromic deafness in 5 families with mono allelic variants in this gene. Mouse model.
Sources: LiteratureCreated: 19 Dec 2019, 1:12 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Deafness
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Literature
- Phenotypes
-
- Deafness, autosomal dominant 76, MIM# 618787
- OMIM
- 602734
- Clinvar variants
- Variants in PLS1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
3 Oct 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pls1 has been classified as Green List (High Evidence).
3 Oct 2020, Gel status: 3
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PLS1 were changed from Deafness to Deafness, autosomal dominant 76, MIM# 618787
21 Jul 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PLS1 was added gene: PLS1 was added to DeafnessIsolated. Sources: Literature,Expert Review Green 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