POP1

POP1 homolog, ribonuclease P/MRP subunit
OMIM: 602486
PanelMode of inheritanceDetails
2 panels
R-numbers: R21, R412
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Anauxetic dysplasia 2, OMIM:617396, Anauxetic dysplasia 2, MONDO:0054561
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Anauxetic dysplasia 2, 617396