1. Panels
  2. Hypophosphataemia or rickets
  3. SLC34A3
STRs in panel
Prev Next
Regions in panel
Prev Next

Hypophosphataemia or rickets

Gene: SLC34A3

Green List (high evidence)
SLC34A3 (solute carrier family 34 member 3)
EnsemblGeneIds (GRCh38): ENSG00000198569
EnsemblGeneIds (GRCh37): ENSG00000198569
OMIM: 609826, Gene2Phenotype
SLC34A3 is in 6 panels

3 reviews

Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust)

Green List (high evidence)

Multiple reports of variants in this gene causing Hypophosphatemic rickets with hypercalciuria
Created: 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

Created: 28 Jan 2019, 11:19 a.m.

Panel version: 0.31

Ivone Leong (Genomics England Curator)

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.
Created: 28 Nov 2018, 3:21 p.m.

Panel version: 0.34

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Created: 24 Nov 2018, 3:24 p.m.

Panel version: 0.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Hypophosphatemic rickets with hypercalciuria (241530)
OMIM
609826
Clinvar variants
Variants in SLC34A3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: Comment when marking as ready:

28 Nov 2018, Gel status: 4

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: slc34a3 has been classified as Green List (High Evidence).

28 Nov 2018, Gel status: 4

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: SLC34A3 were set to

16 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

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)