Genomics England
GMS Panels
Panels
Genes and Entities

RNPC3

RNA binding region (RNP1, RRM) containing 3
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.15
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
RNPC3-associated growth hormone deficiency and short stature, OMIM:618160
Green
in Monogenic short stature
R-numbers: R453
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pituitary hormone deficiency, combined or isolated, 7, OMIM:618160
Green
in Pituitary hormone deficiency
R-numbers: R159
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pituitary hormone deficiency, combined or isolated 7, OMIM:618160, isolated growth hormone deficiency, type 5, MONDO:0032569