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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 3 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

I don't know

Possible DD gene for GROWTH RETARDATION DEVELOPMENTAL DELAY COARSE FACIES AND EARLY DEATH which includes global developmental delay. PMID: 26378117 - a homozygous missense variant in FTO was identified in a 21-month old girl who presented with global developmental delay and other phenotypes. PMID: 19559399 - a homozygous missense variant reported in affected members of a consanguineous Palestinian family with growth retardation, developmental delay and facial dysmorphism. In the list of known ID genes in Gilissen et al, 2014 PMID: 24896178.
Created: 13 Dec 2017, 9:46 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Growth retardation, developmental delay, facial dysmorphism 612938

Publications

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
GROWTH RETARDATION DEVELOPMENTAL DELAY COARSE FACIES AND EARLY DEATH

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Growth retardation, developmental delay, facial dysmorphism 612938
Tags
watchlist
OMIM
610966
Clinvar variants
Variants in FTO
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

28 Sep 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to FTO.

12 Mar 2018, Gel status: 2

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

5 Jan 2018, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

5 Jan 2018, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene FTO was set to ['19559399', '26378117']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

FTO was added to Intellectual disabilitypanel. Source: Expert Review Red

24 Jun 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

24 Jun 2015, Gel status: 2

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

24 Jun 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