CDC45

Green CDC45 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 5.3
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

Sources

• NHS GMS
• Expert Review Green
• Expert list

Phenotypes

• Craniosynostosis (Wilkie) (from Ana Beleza)
• Meier-Gorlin syndrome with craniosynostosis (from PMID 27374770)

Green CDC45 in Fetal anomalies

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

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• Meier-Gorlin Syndrome and Craniosynostosis

Green CDC45 in Rare syndromic craniosynostosis or isolated multisuture synostosis

Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 5.1
Latest signed off version: v5.0 (1 May 2024)

Sources

• NHS GMS
• Expert Review Green
• Expert list

Phenotypes

• Coronal synostosis
• Meier-Gorlin syndrome 7, 617063

Green CDC45 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

• Meier-Gorlin Syndrome and Craniosynostosis

Amber CDC45 in Clefting

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 5.3
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Amber
• Radboud University Medical Center, Nijmegen
• Expert list

Phenotypes

• Meier-Gorlin syndrome 7, 617063
• MGORS7

Red CDC45 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.13
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

• Meier-Gorlin syndrome 7 617063

Green CDC45 in Severe Paediatric Disorders

Version 1.184

Sources

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

Phenotypes

• Meier-Gorlin syndrome 7, 617063