Hereditary Neuropathy - complex
Gene: SGPL1EnsemblGeneIds (GRCh38): ENSG00000166224
EnsemblGeneIds (GRCh37): ENSG00000166224
OMIM: 603729, Gene2Phenotype
SGPL1 is in 12 panels
1 review
Crystle Lee (Victorian Clinical Genetics Services)
Peripheral neuropathy has been reported in patients however does not appear to be consistent feature.
PMID: 28077491: Reported as a cause of CMT in 2 sibs
PMID: 28165339: Reported 7 families with SRNS and facultative ichthyosis, adrenal insufficiency, immunodeficiency, and neurological defects. Peripheral neuropathy (motor and sensory) reported in one family.
PMID: 30274713: Review article.
Sources: Expert ReviewCreated: 6 Jul 2020, 4:35 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephrotic syndrome, type 14 (MIM#617575)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- RENI syndrome (MIM#617575)
- OMIM
- 603729
- Clinvar variants
- Variants in SGPL1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Mackenzie's Mission_Reproductive Carrier Screening
- Combined Immunodeficiency
- Fetal anomalies
- Prepair 1000+
- Hereditary Neuropathy - complex
- Proteinuria
- Mendeliome
- BabyScreen+ newborn screening
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Differences of Sex Development
History Filter Activity
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)
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sgpl1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sgpl1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Crystle Lee (Victorian Clinical Genetics Services)gene: SGPL1 was added gene: SGPL1 was added to Hereditary Neuropathy - complex. Sources: Expert Review Mode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SGPL1 were set to 28077491; 28165339; 30274713; 28165343 Phenotypes for gene: SGPL1 were set to Nephrotic syndrome, type 14 (MIM#617575) Review for gene: SGPL1 was set to AMBER