Genomics England
GMS Panels
Panels
Genes and Entities

CYP24A1

cytochrome P450 family 24 subfamily A member 1
OMIM: 126065
PanelMode of inheritanceDetails
3 panels
Green
in Cystic kidney disease
Component of the following Super Panels:
  • - Cystic renal disease
  • - Unexplained young onset end-stage renal disease
Signed-off version 7.12
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypercalcemia, infantile, 1, OMIM:143880, hypercalcemia, infantile, 1, MONDO:0020739
Green
in Nephrocalcinosis or nephrolithiasis
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
R-numbers: R256
Signed-off version 4.19
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Infantile Hypercalcemia, Hypercalcemia, infantile, 143880, Infantile hypercalcaemia
Green
in Renal tubulopathies
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
R-numbers: R198
Signed-off version 4.21
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypercalcemia, infantile, 1 143880