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 0.416

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 1.2302

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

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 0.86

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 0.109

review 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 0.260

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 1.313

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 1.1566

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