RIPK4

receptor interacting serine/threonine kinase 4
OMIM: 605706, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green RIPK4 in Ectodermal dysplasia


Level 2: Dermatology
Version 4.23
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • CHAND syndrome, OMIM:214350
  • Popliteal pterygium syndrome, Bartsocas-Papas type 1, OMIM:263650
  • ectodermal dysplasia syndrome, MONDO:0019287
Green RIPK4 in Arthrogryposis


Level 2: Neurology
Version 9.24
Latest signed off version: v9.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Popliteal pterygium syndrome, Bartsocas-Papas type 263650
Green RIPK4 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.138
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE
Green RIPK4 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE 263650
    Red RIPK4 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Popliteal pterygium syndrome 2, lethal type, 263650
    Green RIPK4 in Structural eye disease


    Level 2: Ophthalmology
    Version 4.37
    Latest signed off version: v4.0 (7 Aug 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Popliteal pterygium syndrome, Bartsocas-Papas type, 263650