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Arthrogryposis

Gene: RIPK4

Green List (high evidence)

RIPK4 (receptor interacting serine/threonine kinase 4)
EnsemblGeneIds (GRCh38): ENSG00000183421
EnsemblGeneIds (GRCh37): ENSG00000183421
OMIM: 605706, Gene2Phenotype
RIPK4 is in 5 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

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
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

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

5 Jan 2017, Gel status: 4

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for RIPK4 were set to Popliteal pterygium syndrome, Bartsocas-Papas type 263650

5 Jan 2017, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for RIPK4 were set to 22197488

5 Jan 2017, Gel status: 4

Set Mode of Inheritance

Alice Gardham (Genomics England)

Mode of inheritance for RIPK4 was changed to BIALLELIC, autosomal or pseudoautosomal

5 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

5 Jan 2017, Gel status: 2

Upload gene information

Alice Gardham (Genomics England)

RIPK4 was added to Arthrogryposispanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Literature

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

RIPK4 was added to Arthrogryposispanel. Sources: Expert list

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

RIPK4 was created by ellenmcdonagh