Hypophosphataemia or rickets

Gene: SLC9A3R1

Added 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

Red List (low evidence)

Insufficient evidence to support inclusion

Created: 16 Jan 2019, 1:17 p.m.

I don't know

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

• 18784102
• 25296721
• 19073985