Hypophosphataemia or rickets
Gene: SLC34A1

SLC34A1 (solute carrier family 34 member 1)
EnsemblGeneIds (GRCh38): ENSG00000131183
EnsemblGeneIds (GRCh37): ENSG00000131183
OMIM: 182309, Gene2Phenotype
SLC34A1 is in 6 panels

1 review

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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, 11:45 a.m.

Comment on list classification: Promoted from red to green based on previous comments.
Created: 4 Dec 2018, 10:49 a.m.

Found an additional case (PMID: 25050900) of 2 siblings from Argentina who have hypophosphatemic nephrolithiasis/osteoporosis with a missense variant in SLC34A1.
Created: 3 Dec 2018, 11:21 a.m.

SLC34A1 is confirmed to be associated with Nephrolithiasis/osteoporosis, hypophosphatemic, 1 on OMIM but no phenotypes are listed for this gene one Gene2Phenotype. There are 2 unrelated cases (PMID: 12324554) of patients who have hypophosphatemic nephrolithiasis/osteoporosis with missense variants in SLC34A1. However, a homozygous knockout mouse model (PMID: 9560283) did not show any sign of rickets.
Created: 3 Dec 2018, 11:02 a.m.

Publications

Created: 3 Dec 2018, 11:02 a.m.

Panel version: 0.34

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
Literature

Phenotypes

Nephrolithiasis/osteoporosis, hypophosphatemic, 1 (612286)

OMIM

182309

Clinvar variants

Variants in SLC34A1

Penetrance

None

Publications

Panels with this gene