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  3. FTO
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Intellectual_disability

Gene: FTO

Amber List (moderate evidence)
FTO (FTO, alpha-ketoglutarate dependent dioxygenase)
EnsemblGeneIds (GRCh38): ENSG00000140718
EnsemblGeneIds (GRCh37): ENSG00000140718
OMIM: 610966, Gene2Phenotype
FTO is in 5 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Growth retardation, developmental delay, coarse facies, and early death, 612938
  • Growth Retardation, Developmental Delay, Coarse Facies, andEarly Death
OMIM
610966
Clinvar variants
Variants in FTO
Penetrance
Complete
Panels with this gene

History Filter Activity

8 Oct 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene FTO was set to BIALLELIC, autosomal or pseudoautosomal

8 Oct 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

FTO was added to Intellectual_disabilitypanel. Source: Radboud University Medical Center, Nijmegen

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FTO was added to Intellectual_disabilitypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen