Clefting
Gene: FTOEnsemblGeneIds (GRCh38): ENSG00000140718
EnsemblGeneIds (GRCh37): ENSG00000140718
OMIM: 610966, Gene2Phenotype
FTO is in 5 panels
1 review
Louise Daugherty (Genomics England Curator)
Comment on publications: Only two unrelated cases for the disorder. Clefting is only observed in the large consanguineous family, where the number of patients presenting clefting was 3 and caused by a chromosome deletion.Created: 30 May 2017, 1:54 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Growth retardation, developmental delay, facial dysmorphism, 612938
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- Phenotypes
-
- Growth retardation, developmental delay, facial dysmorphism, 612938
- Lethal polymalformative syndrome, Boissel type
- OMIM
- 610966
- Clinvar variants
- Variants in FTO
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for FTO were set to Growth retardation, developmental delay, facial dysmorphism, 612938; Lethal polymalformative syndrome, Boissel type
Upload gene information
Louise Daugherty (Genomics England Curator)FTO was added to Cleftingpanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Set publications
Louise Daugherty (Genomics England Curator)Publications for FTO were set to 19559399; 26378117
Added New Source
Louise Daugherty (Genomics England Curator)FTO was added to Cleftingpanel. Sources: Expert list
Created
Louise Daugherty (Genomics England Curator)FTO was created by LouiseD