PanelApp
  1. Genes and Genomic Entities
  2. RIPK4

RIPK4

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

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green RIPK4 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.427

Component of the following Super Panels:

  • Neuromuscular Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Popliteal pterygium syndrome, Bartsocas-Papas type, MIM# 263650

    Green RIPK4 in Mendeliome


    Version 1.3512

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Popliteal pterygium syndrome, Bartsocas-Papas type, MIM# 263650

    Green RIPK4 in Multiple pterygium syndrome_Fetal akinesia sequence


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.5

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Popliteal pterygium syndrome, Bartsocas-Papas type, MIM# 263650

    Green RIPK4 in Ectodermal Dysplasia


    Level 2: Dermatological disorders
    Version 0.102

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • 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 Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Popliteal pterygium syndrome 2, lethal type, 263650 (3)

    Green RIPK4 in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.278

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Popliteal pterygium syndrome, Bartsocas-Papas type 1, MIM# 263650

    Green RIPK4 in Fetal anomalies


    Version 1.465

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Popliteal pterygium syndrome, Bartsocas-Papas type, MIM# 263650

    Green RIPK4 in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Popliteal pterygium syndrome, Bartsocas-Papas type 1, MIM# 263650