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Skeletal dysplasia

Gene: SLC34A1

Green List (high evidence)

SLC34A1 (solute carrier family 34 member 1)
EnsemblGeneIds (GRCh38): ENSG00000131183
EnsemblGeneIds (GRCh37): ENSG00000131183
OMIM: 182309, Gene2Phenotype
SLC34A1 is in 5 panels

1 review

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Changing rating from red to green. Including genes that are green on the Hypophosphataemia or rickets panel (panel ID:482, version 2.1) as green on the Skeletal dysplasia panel on the advice of Prof Lyn Chitty.
Created: 11 Dec 2019, 2:38 p.m. | Last Modified: 11 Dec 2019, 2:38 p.m.
Panel Version: 1.274
Adding genes that are green on the Hypophosphataemia or rickets panel
Sources: Other
Created: 11 Dec 2019, 2:36 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286
OMIM
182309
Clinvar variants
Variants in SLC34A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: slc34a1 has been classified as Green List (High Evidence).

11 Dec 2019, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: SLC34A1 was added gene: SLC34A1 was added to Skeletal dysplasia. Sources: Other Mode of inheritance for gene: SLC34A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC34A1 were set to 12324554; 9560283; 25050900 Phenotypes for gene: SLC34A1 were set to Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286 Review for gene: SLC34A1 was set to GREEN