Hypophosphataemia or rickets
Gene: SLC9A3R1Added new-gene-name tag, new approved HGNC gene symbol for SLC9A3R1 (HGNC:11075) is NHERF1.Created: 8 Feb 2023, 1:53 p.m. | Last Modified: 8 Feb 2023, 1:53 p.m.
Panel Version: 3.1
Insufficient evidence to support inclusionCreated: 16 Jan 2019, 1:17 p.m.
Comment on list classification: Demoted from amber to red based on review by Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust).Created: 16 Jan 2019, 1:19 p.m.
Comment on list classification: Promoted from red to amber based on previous comment.Created: 4 Dec 2018, 10:53 a.m.
SLC9A3R1 is conformed to be associated with Nephrolithiasis/osteoporosis, hypophosphatemic, 2; however, there are no phenotypes listed for this gene on Gene2Phenotype.There are >3 reported cases (PMID: 18784102;25296721) of unrelated patients diagnosed with hypophosphataemic nephrolithiasis with variants in SLC9A3R1 (total of 4 variants so far); however, 2 of these variants have been disputed as to whether they are causative of the phenotype or not (PMID: 19073985), and another variant listed as being likely benign on ClinVar. Therefore, amber rating.Created: 3 Dec 2018, 1:13 p.m.
Publications
Tag new-gene-name tag was added to gene: SLC9A3R1.
Ivone Leong: SLC9A3R1 is conformed to be as
Gene: slc9a3r1 has been classified as Red List (Low Evidence).
Gene: slc9a3r1 has been classified as Red List (Low Evidence).
Gene: slc9a3r1 has been classified as Amber List (Moderate Evidence).
Publications for gene: SLC9A3R1 were set to
gene: SLC9A3R1 was added gene: SLC9A3R1 was added to Hypophosphataemia or rickets. Sources: Radboud University Medical Center, Nijmegen Mode of inheritance for gene: SLC9A3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SLC9A3R1 were set to Nephrolithiasis/osteoporosis, hypophosphatemic, 2 (612287)