FITM2

fat storage inducing transmembrane protein 2
OMIM: 612029, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green FITM2 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Siddiqi syndrome MIM#618635
  • dystonia
  • deafness

Green FITM2 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.194

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Siddiqi syndrome MIM#618635
  • dystonia
  • deafness

Green FITM2 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
  • Expert list
Phenotypes
  • Siddiqi syndrome MIM#618635

Green FITM2 in Dystonia - complex


Level 2: Neurology and neurodevelopmental disorders
Version 0.235

Component of the following Super Panels:

  • Dystonia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Siddiqi syndrome MIM#618635
    • dystonia
    • deafness

    Red FITM2 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Siddiqi syndrome MIM#618635

    Red FITM2 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Siddiqi syndrome MIM#618635