FTO

Amber FTO in Fetal anomalies

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

Sources

• Expert Review Amber
• Literature
• Expert Review

Phenotypes

• Growth retardation, developmental delay, facial dysmorphism

Red FTO 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

• Literature

Phenotypes

• craniosynostosis, MONDO:0015469

Red FTO 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 Red

Phenotypes

• GROWTH RETARDATION DEVELOPMENTAL DELAY COARSE FACIES AND EARLY DEATH 612938

Amber FTO 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

• Illumina TruGenome Clinical Sequencing Services
• Radboud University Medical Center, Nijmegen
• Expert list

Phenotypes

• Growth retardation, developmental delay, facial dysmorphism, 612938
• Lethal polymalformative syndrome, Boissel type

Amber FTO in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.9
Latest signed off version: v6.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Victorian Clinical Genetics Services
• Expert Review Amber
• Radboud University Medical Center, Nijmegen
• Illumina TruGenome Clinical Sequencing Services

Phenotypes

• Growth retardation, developmental delay, facial dysmorphism 612938

Tags

• watchlist