Renal ciliopathies
Gene: SLC41A1EnsemblGeneIds (GRCh38): ENSG00000133065
EnsemblGeneIds (GRCh37): ENSG00000133065
OMIM: 610801, Gene2Phenotype
SLC41A1 is in 5 panels
2 reviews
Catherine Snow (Genomics England)
Comment on list classification: SLC41A1 is associated with Mg2+ transport and a gene disease relationship was identified in PMID: 23661805. Since then no further cases reported and SLC41A1 has no phenotype MIM number.Created: 25 Mar 2020, 12:09 p.m. | Last Modified: 25 Mar 2020, 12:09 p.m.
Panel Version: 1.5
Zornitza Stark (Australian Genomics)
Single family reported, functional data.
Sources: Expert listCreated: 3 Jan 2020, 4:43 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Nephronophthisis
- OMIM
- 610801
- Clinvar variants
- Variants in SLC41A1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Catherine Snow (Genomics England)Gene: slc41a1 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Catherine Snow (Genomics England)Gene: slc41a1 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Catherine Snow (Genomics England)Gene: slc41a1 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: SLC41A1 was added gene: SLC41A1 was added to Renal ciliopathies. Sources: Expert list Mode of inheritance for gene: SLC41A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC41A1 were set to 23661805 Phenotypes for gene: SLC41A1 were set to Nephronophthisis Review for gene: SLC41A1 was set to RED