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Prepair 1000+

Gene: FTO

Green List (high evidence)
FTO (FTO, alpha-ketoglutarate dependent dioxygenase)
EnsemblGeneIds (GRCh38): ENSG00000140718
EnsemblGeneIds (GRCh37): ENSG00000140718
OMIM: 610966, Gene2Phenotype
FTO is in 6 panels

2 reviews

Lilian Downie (Victorian Clinical Genetics Services)

Comment when marking as ready: Growth retardation, developmental delay, and facial dysmorphism (GDFD) is an autosomal recessive multiple congenital anomaly syndrome characterized by severe psychomotor retardation, poor overall growth, and dysmorphic facial features. Additional features may include cardiac malformations and deafness
Created: 4 Sep 2024, 6:33 a.m. | Last Modified: 4 Sep 2024, 6:33 a.m.
Panel Version: 1.253
Created: 4 Sep 2024, 6:33 a.m.
Last Modified: 4 Sep 2024, 6:33 a.m.
Panel version: 1.253

Marta Cifuentes Ochoa (Victorian Clinical Genetics Services)

Green List (high evidence)

HGNC approved symbol/name: FTO
Is the phenotype(s) severe and onset <18yo ? Y
Known technical challenges? N
Gene reported in >3 independent families
Created: 4 Sep 2024, 2:20 a.m. | Last Modified: 4 Sep 2024, 2:20 a.m.
Panel Version: 1.248

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Growth retardation, developmental delay, facial dysmorphism MIM#612938; lethal polymalformative syndrome, Boissel type MONDO:0013050

Publications

Created: 4 Sep 2024, 2:20 a.m.
Last Modified: 4 Sep 2024, 2:20 a.m.
Panel version: 1.248

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Growth retardation, developmental delay, facial dysmorphism MIM#612938
OMIM
610966
Clinvar variants
Variants in FTO
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: fto has been classified as Green List (High Evidence).

4 Sep 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: FTO were set to

4 Sep 2024, Gel status: 3

Set Phenotypes

Lilian Downie (Victorian Clinical Genetics Services)

Phenotypes for gene: FTO were changed from Growth retardation, developmental delay, coarse facies, and early death, 612938 (3) to Growth retardation, developmental delay, facial dysmorphism MIM#612938

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FTO was added gene: FTO was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FTO was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FTO were set to Growth retardation, developmental delay, coarse facies, and early death, 612938 (3)