MAP3K7

Green MAP3K7 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.208
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

Sources

• NHS GMS
• Expert Review Green
• Literature

Phenotypes

• Frontometaphyseal dysplasia 2, 617137

Green MAP3K7 in Fetal anomalies

Version 1.880
Latest signed off version: v1.92 (21 Aug 2020)

Sources

• Expert Review Green
• PAGE DD-Gene2Phenotype

Phenotypes

• Cardiospondylocarpofacial syndrome, OMIM:157800
• Cardiospondylocarpofacial syndrome, MONDO:0008005
• Frontometaphyseal dysplasia 2, OMIM:617137
• Frontometaphyseal dysplasia 2, MONDO:0014935

Amber MAP3K7 in DDG2P

Version 2.76
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Amber

Phenotypes

• FRONTOMETAPHYSEAL DYSPLASIA 305620
• Cardiospondylocarpofacial syndrome

Green MAP3K7 in Clefting

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.69
Latest signed off version: v2.2 (4 Mar 2020)

Component of the following Super Panels:

Sources

• Expert Review Green

Phenotypes

• Frontometaphyseal dysplasia 2, 617137
• FMD2
• autosomal dominant FMD
• AD-FMD

Red MAP3K7 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1651
Latest signed off version: v3.2 (13 Feb 2020)

Component of the following Super Panels:

Sources

• Expert Review Red
• Literature
• Literature

Phenotypes

• Frontometaphyseal dysplasia 2, 617137

Green MAP3K7 in Severe Paediatric Disorders

Version 1.127

Sources

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

Phenotypes

• Cardiospondylocarpofacial syndrome, 157800
• Frontometaphyseal dysplasia 2, 617137