Monogenic hearing loss
Gene: SGPL1
SGPL1 (sphingosine-1-phosphate lyase 1)
EnsemblGeneIds (GRCh38): ENSG00000166224
EnsemblGeneIds (GRCh37): ENSG00000166224
OMIM: 603729, Gene2Phenotype
SGPL1 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000166224
EnsemblGeneIds (GRCh37): ENSG00000166224
OMIM: 603729, Gene2Phenotype
SGPL1 is in 10 panels
1 review
Sarah Leigh (Genomics England Curator)
Associated with phenotype in OMIM, not in G2P. At least 8 variants reported in at least 8 families from different populations. Supporting functional studies also presented.Created: 18 Sep 2017, 9:29 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephrotic syndrome 14 617575
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Nephrotic syndrome 14 617575
- OMIM
- 603729
- Clinvar variants
- Variants in SGPL1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
18 Sep 2017, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
18 Sep 2017, Gel status: 0
Added New Source
Sarah Leigh (Genomics England Curator)SGPL1 was added to Congenital hearing impairment (profound/severe)panel. Sources: Literature
18 Sep 2017, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)SGPL1 was created by sleigh