FTO

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

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green FTO in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Growth retardation, developmental delay, facial dysmorphism MIM#612938

Green FTO in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Growth retardation, developmental delay, facial dysmorphism, MIM# 612938

Green FTO in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.109

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Growth retardation, developmental delay, coarse facies, and early death, 612938 (3)

Amber FTO in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.252

review 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

Green FTO in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Growth retardation, developmental delay, facial dysmorphism - MIM#612938
  • multiple congenital malformations

Green FTO in Prepair 1000+


Level 2: Screening
Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Growth retardation, developmental delay, coarse facies, and early death, 612938 (3)