Genomics England
GMS Panels
Panels
Genes and Entities

SLC34A3

solute carrier family 34 member 3
OMIM: 609826
PanelMode of inheritanceDetails
3 panels
Green
in Hypophosphataemia or rickets
R-numbers: R154
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypophosphatemic rickets with hypercalciuria (241530)
Green
in Nephrocalcinosis or nephrolithiasis
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
R-numbers: R256
Signed-off version 4.16
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Hypophosphatemic rickets with hypercalciuria, OMIM:241530, HHRH, hereditary hypophosphatemic rickets with hypercalciuria, MONDO:0009431
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 6.16
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypophosphatemic rickets with hypercalciuria 241530