Hypophosphataemia or rickets
Gene: SLC34A3
Multiple reports of variants in this gene causing Hypophosphatemic rickets with hypercalciuriaCreated: 28 Jan 2019, 11:19 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypophosphatemic rickets with hypercalciuria
Publications
Variants in this GENE are reported as part of current diagnostic practice
As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 29 Jan 2019, 11:44 a.m.
SLC34A3 is a green gene on the Skeletal dysplasia panel (Version 1.129).Created: 30 Nov 2018, 2:59 p.m.
Comment when marking as ready: OMIM lists hypophosphataemic rickets as a phenotype associated with SLC34A3; however, nothing is listed on Gene2Phenotype. There are more then 3 families with hypophosphataemic rickets with different SLC34A3 variants.Created: 28 Nov 2018, 3:21 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Ivone Leong: Comment when marking as ready:
Gene: slc34a3 has been classified as Green List (High Evidence).
Publications for gene: SLC34A3 were set to
gene: SLC34A3 was added gene: SLC34A3 was added to Hypophosphataemia or rickets. Sources: UKGTN,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: SLC34A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC34A3 were set to Hypophosphatemic rickets with hypercalciuria (241530)