TOGARAM1

TOG array regulator of axonemal microtubules 1
OMIM: 617618, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red TOGARAM1 in Fetal anomalies


Version 3.164
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Cleft of the lip and palate
  • Microphthalmia
  • Cerebral dysgenesis
  • Hydrocephalus
Green TOGARAM1 in DDG2P


Version 3.88
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • TOGARAM1-related ciliopathy
    Amber TOGARAM1 in Structural eye disease


    Version 3.77
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • TOGARAM1-related ciliopathy
    Tags
    • watchlist
    Green TOGARAM1 in Neurological ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 3.19
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Joubert syndrome 37, OMIM:619185
    • Joubert syndrome 37, MONDO:0030933