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  3. SGPL1
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Deafness_IsolatedAndComplex

Gene: SGPL1

Green List (high evidence)
SGPL1 (sphingosine-1-phosphate lyase 1)
EnsemblGeneIds (GRCh38): ENSG00000166224
EnsemblGeneIds (GRCh37): ENSG00000166224
OMIM: 603729, Gene2Phenotype
SGPL1 is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Deafness is part of the phenotype.
Sources: Expert list
Created: 2 Jan 2020, 2:22 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephrotic syndrome, type 14, MIM# 617575

Publications

Created: 2 Jan 2020, 2:22 a.m.

Panel version: 0.173

History Filter Activity

3 Oct 2024, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: SGPL1 were changed from Nephrotic syndrome, type 14, MIM# 617575 to RENI syndrome (MIM#617575)

2 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sgpl1 has been classified as Green List (High Evidence).

2 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sgpl1 has been classified as Green List (High Evidence).

2 Jan 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SGPL1 was added gene: SGPL1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list Mode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SGPL1 were set to 28181337; 28165339; 28165343 Phenotypes for gene: SGPL1 were set to Nephrotic syndrome, type 14, MIM# 617575 Review for gene: SGPL1 was set to GREEN