Renal Ciliopathies and Nephronophthisis
Gene: SLC41A1EnsemblGeneIds (GRCh38): ENSG00000133065
EnsemblGeneIds (GRCh37): ENSG00000133065
OMIM: 610801, Gene2Phenotype
SLC41A1 is in 4 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis-like nephropathy 2, MIM# 619468
Chirag Patel (Genetic Health Queensland)
Only 1 case reported with NPHP phenotype, but with good functional evidence of pathogenicity of mutations, and animal model with similar phenotype.Created: 3 Jan 2020, 4:45 a.m. | Last Modified: 3 Jan 2020, 4:45 a.m.
Panel Version: 0.53
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
no OMIM number
Publications
- PMID: 23661805
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- KidGen_CilioNephronop v38.1.0
- Phenotypes
-
- Nephronophthisis-like nephropathy 2, MIM# 619468
- OMIM
- 610801
- Clinvar variants
- Variants in SLC41A1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SLC41A1 were changed from Nephronophthisis; no OMIM number to Nephronophthisis-like nephropathy 2, MIM# 619468
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc41a1 has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SLC41A1 were changed from to Nephronophthisis; no OMIM number
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: SLC41A1 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: SLC41A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: slc41a1 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SLC41A1 was added gene: SLC41A1 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0 Mode of inheritance for gene: SLC41A1 was set to Unknown