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Hearing loss

Gene: SGPL1

Green List (high evidence)

SGPL1 (sphingosine-1-phosphate lyase 1)
EnsemblGeneIds (GRCh38): ENSG00000166224
EnsemblGeneIds (GRCh37): ENSG00000166224
OMIM: 603729, Gene2Phenotype
SGPL1 is in 11 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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

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