Genomics England
GMS Panels
Panels
Genes and Entities

POP1

POP1 homolog, ribonuclease P/MRP subunit
OMIM: 602486
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OMIM:617396.0, MONDO:0054561, POP1-related anauxetic dysplasia
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Anauxetic dysplasia 2, OMIM:617396, Anauxetic dysplasia 2, MONDO:0054561
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Anauxetic dysplasia 2, 617396