Genomics England
GMS Panels
Panels
Genes and Entities

RIPK4

receptor interacting serine/threonine kinase 4
OMIM: 605706
PanelMode of inheritanceDetails
5 panels
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 8.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Popliteal pterygium syndrome, Bartsocas-Papas type 263650
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.48
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE 263650
Green
in Ectodermal dysplasia
R-numbers: R163
Signed-off version 3.35
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CHAND syndrome, OMIM:214350, Popliteal pterygium syndrome, Bartsocas-Papas type 1, OMIM:263650, ectodermal dysplasia syndrome, MONDO:0019287
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.80
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE
Green
in Structural eye disease
R-numbers: R36
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Popliteal pterygium syndrome, Bartsocas-Papas type, 263650