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Renal tubulopathies v3.3 SLC9A3R1 Eleanor Williams Tag new-gene-name tag was added to gene: SLC9A3R1.
Renal tubulopathies v3.3 SLC9A3R1 Eleanor Williams commented on gene: SLC9A3R1: Added new-gene-name tag, new approved HGNC gene symbol for SLC9A3R1 (HGNC:11075) is NHERF1.
Renal tubulopathies v1.175 SLC9A3R1 Eleanor Williams Publications for gene: SLC9A3R1 were set to
Renal tubulopathies v1.174 SLC9A3R1 Eleanor Williams Classified gene: SLC9A3R1 as Red List (low evidence)
Renal tubulopathies v1.174 SLC9A3R1 Eleanor Williams Added comment: Comment on list classification: After consultation with the Genomics England rare disease clinical team leaving this gene red on this panel as hypophosphatemia is covered by the 'R154 Hypophosphataemia or rickets' panel where it is rated amber.
Renal tubulopathies v1.174 SLC9A3R1 Eleanor Williams Gene: slc9a3r1 has been classified as Red List (Low Evidence).
Renal tubulopathies v1.173 SLC9A3R1 Eleanor Williams changed review comment from: Associated with Nephrolithiasis/osteoporosis, hypophosphatemic, 2 #612287 in OMIM.

PubMed: 18784102 - Karim et al 2008 - sequenced the NHERF1 gene (now called SLC9A3R1) in 158 patients, 94 of whom had either nephrolithiasis or bone demineralization. They identified three distinct heterozygous missense mutations in the NHERF1 gene in four unrelated patients. All four patients with NHERF1 mutations had TmP/GFR values below the lower limit of the normal range, as well as hypophosphatemia. Patients 1, 3, and 4 also had recurrent nephrolithiasis. The four patients with mutations did not have proximal-tubule dysfunction other than the low TmP/GFR value. The results identify NHERF1 mutations as a cause of renal phosphate loss that may increase the risk of renal stone formation or bone demineralization: the mutations were identified only in patients with TmP/GFR values that were below normal and significantly lower than those in patients in whom mutations were not identified; to: Associated with Nephrolithiasis/osteoporosis, hypophosphatemic, 2 #612287 in OMIM.

PubMed: 18784102 - Karim et al 2008 - sequenced the NHERF1 gene (now called SLC9A3R1) in 158 patients, 94 of whom had either nephrolithiasis or bone demineralization. They identified three distinct heterozygous missense mutations (328C->G, L110V; 458G->A,R153Q;673G->A,E225K) in the NHERF1 gene in four unrelated patients. All four patients with NHERF1 mutations had TmP/GFR values below the lower limit of the normal range, as well as hypophosphatemia. Patients 1, 3, and 4 also had recurrent nephrolithiasis. The four patients with mutations did not have proximal-tubule dysfunction other than the low TmP/GFR value. The results identify NHERF1 mutations as a cause of renal phosphate loss that may increase the risk of renal stone formation or bone demineralization: the mutations were identified only in patients with TmP/GFR values that were below normal and significantly lower than those in patients in whom mutations were not identified

PMID: 25296721 - Halbritter et al 2015 - identify pathogenic heterozygous variants in SLC9A3R1 in 2 families. c.673G>A, p.Glu225Lys and c.888+2T>C, 5′ splice site (new variant).

PMID: 19073985 - Bergwitz et al 2008 - report that 2 of the variants (328C->G and 458G->A) reported by Karim et al 2008 are listed as single-nucleotide polymorphisms in the National Center for Biotechnology Information dbSNP, Ensembl, and GeneCards databases with an allele frequency of 0.01 and 0.03.

Amber rating suggested.
Renal tubulopathies v1.173 SLC9A3R1 Eleanor Williams Mode of inheritance for gene: SLC9A3R1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal tubulopathies v1.82 SLC9A3R1 Eleanor Williams commented on gene: SLC9A3R1: Associated with Nephrolithiasis/osteoporosis, hypophosphatemic, 2 #612287 in OMIM.

PubMed: 18784102 - Karim et al 2008 - sequenced the NHERF1 gene (now called SLC9A3R1) in 158 patients, 94 of whom had either nephrolithiasis or bone demineralization. They identified three distinct heterozygous missense mutations in the NHERF1 gene in four unrelated patients. All four patients with NHERF1 mutations had TmP/GFR values below the lower limit of the normal range, as well as hypophosphatemia. Patients 1, 3, and 4 also had recurrent nephrolithiasis. The four patients with mutations did not have proximal-tubule dysfunction other than the low TmP/GFR value. The results identify NHERF1 mutations as a cause of renal phosphate loss that may increase the risk of renal stone formation or bone demineralization: the mutations were identified only in patients with TmP/GFR values that were below normal and significantly lower than those in patients in whom mutations were not identified
Renal tubulopathies v1.66 SLC9A3R1 Eleanor Williams Phenotypes for gene: SLC9A3R1 were changed from to Nephrolithiasis/osteoporosis, hypophosphatemic, 2, 612287
Renal tubulopathies v1.16 SLC9A3R1 Eleanor Williams reviewed gene: SLC9A3R1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM 612287; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Renal tubulopathies v1.15 SLC9A3R1 Eleanor Williams gene: SLC9A3R1 was added
gene: SLC9A3R1 was added to Renal tubulopathies. Sources: NHS GMS
Mode of inheritance for gene: SLC9A3R1 was set to