Skeletal dysplasia
Gene: SLC34A3
Abnormal mineralization gp of SD. > 3 cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypophosphatemic rickets with hypercalciuria 241530
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: SLC34A3; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:37 a.m.
Comment when marking as ready: Numerous variants reported in this phenotype.Created: 12 Jul 2016, 1:09 p.m.
Tier 1Created: 17 Jun 2016, 8:08 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypophosphatemic rickets with hypercalciuria 241530
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Hypophosphatemic rickets with hypercalciuria 241530 for gene: SLC34A3
Source NHS GMS was added to SLC34A3. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for SLC34A3 were set to Hypophosphatemic rickets with hypercalciuria 241530
Mode of inheritance for SLC34A3 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
SLC34A3 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,UKGTN
SLC34A3 was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory SLC34A3 was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Red
SLC34A3 was added to Unexplained skeletal dysplasiapanel. Sources:
SLC34A3 was created by sleigh