RIPK4

Amber RIPK4 in Ectodermal dysplasia

Version 3.29
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Amber
• Literature

Phenotypes

• CHAND syndrome, OMIM:214350
• Popliteal pterygium syndrome, Bartsocas-Papas type 1, OMIM:263650
• ectodermal dysplasia syndrome, MONDO:0019287

Tags

• Q1_23_promote_green

Green RIPK4 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.3
Latest signed off version: v6.0 (1 May 2024)

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

Version 4.1
Latest signed off version: v4.0 (1 May 2024)

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE

Green RIPK4 in DDG2P

Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE 263650

Red RIPK4 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.12
Latest signed off version: v6.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Red
• BRIDGE study SPEED NEURO Tier1 Gene

Phenotypes

• Popliteal pterygium syndrome 2, lethal type, 263650

Green RIPK4 in Structural eye disease

Version 3.79
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• NHS GMS
• Expert Review Green
• London North GLH

Phenotypes

• Popliteal pterygium syndrome, Bartsocas-Papas type, 263650

Green RIPK4 in Severe Paediatric Disorders

Version 1.184

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• Popliteal pterygium syndrome, Bartsocas-Papas type, 263650
• CHAND syndrome, 214350