Arthrogryposis
Gene: RIPK4

RIPK4 (receptor interacting serine/threonine kinase 4)
EnsemblGeneIds (GRCh38): ENSG00000183421
EnsemblGeneIds (GRCh37): ENSG00000183421
OMIM: 605706, Gene2Phenotype
RIPK4 is in 6 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Mutations identified in at least five families. Recognised on G2P
Created: 5 Jan 2017, 12:28 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Popliteal pterygium syndrome, Bartsocas-Papas type 263650

Publications

22197488

Created: 5 Jan 2017, 12:28 p.m.

Panel version: 1.262

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen
Literature
Illumina TruGenome Clinical Sequencing Services
Expert list

Phenotypes

Popliteal pterygium syndrome, Bartsocas-Papas type 263650

OMIM

605706

Clinvar variants

Variants in RIPK4

Penetrance

Complete

Publications

22197488

Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 4

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

5 Jan 2017, Gel status: 4