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Osteogenesis imperfecta

Gene: SLC34A3

Red List (low evidence)

SLC34A3 (solute carrier family 34 member 3)
EnsemblGeneIds (GRCh38): ENSG00000198569
EnsemblGeneIds (GRCh37): ENSG00000198569
OMIM: 609826, Gene2Phenotype
SLC34A3 is in 7 panels

3 reviews

Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)

Red List (low evidence)

Chris Boustred (Genomics England)

Comment when marking as ready: Keep as red, disagreement between expert reviewers and association with Rickets not OI
Created: 10 May 2016, 3:17 p.m.

Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)

Green List (high evidence)

Hereditary hypophosphateaemic rickets
Created: 27 Nov 2015, 3:04 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Details

Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Osteogenesis Imperfecta and Decreased Bone Density
  • skeletal dysplasias
OMIM
609826
Clinvar variants
Variants in SLC34A3
Penetrance
Complete
Panels with this gene

History Filter Activity

10 May 2016, Gel status: 1

Gene classified by Genomics England curator

Chris Boustred (Genomics England)

This gene has been classified as Red List (Low Evidence).

23 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC34A3 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory