FTO

FTO, alpha-ketoglutarate dependent dioxygenase
OMIM: 610966, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Red FTO in Severe microcephaly Level 2: Neurology Version 9.58 Latest signed off version: v9.13 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Growth retardation, developmental delay, facial dysmorphism, OMIM:612938 lethal polymalformative syndrome, Boissel type, MONDO:0013050
Green FTO in Fetal anomalies Level 2: Fetal (including NIPD) Version 8.31 Latest signed off version: v8.0 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Expert Review Phenotypes Growth retardation, developmental delay, facial dysmorphism, OMIM: 612938
Red FTO in Rare syndromic craniosynostosis or isolated multisuture synostosis Level 2: Musculoskeletal Version 7.3 Latest signed off version: v7.0 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Growth retardation, developmental delay, facial dysmorphism, OMIM:612938 lethal polymalformative syndrome, Boissel type, MONDO:0013050 craniosynostosis, MONDO:0015469
Red FTO in DDG2P Version 8.2 Latest signed off version: v8.0 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes GROWTH RETARDATION DEVELOPMENTAL DELAY COARSE FACIES AND EARLY DEATH 612938
Red FTO in Clefting Level 2: Musculoskeletal Version 7.18 Latest signed off version: v7.8 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Expert list Phenotypes Growth retardation, developmental delay, facial dysmorphism, OMIM:612938 lethal polymalformative syndrome, Boissel type, MONDO:0013050
Amber FTO in Intellectual disability Level 2: Developmental disorders Version 11.75 Latest signed off version: v11.0 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	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, OMIM:612938 lethal polymalformative syndrome, Boissel type, MONDO:0013050 Tags Q4_26_promote_green