Genomics England
GMS Panels
Panels
Genes and Entities

SLC34A1

solute carrier family 34 member 1
OMIM: 182309
PanelMode of inheritanceDetails
3 panels
Green
in Hypophosphataemia or rickets
R-numbers: R154
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Nephrolithiasis/osteoporosis, hypophosphatemic, 1 (612286)
Green
in Nephrocalcinosis or nephrolithiasis
R-numbers: R256
Signed-off version 4.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286, Hypophosphatemic Nephrolithiasis/Osteoporosis, Hypophosphatemic Nephrolithiasis/Osteoporosis (recessive), Nephrolithiasis with osteoporosis and hypophosphatemia, Nephrolithiasis with osteoporosis and hypophosphatemia
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 4.31
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286