TGDS

TDP-glucose 4,6-dehydratase
OMIM: 616146, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green TGDS in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Catel-Manzke syndrome, MIM# 616145

Green TGDS in Pierre Robin Sequence


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.47

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Red TGDS in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.285

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Catel-Manzke syndrome 616145

Green TGDS in Clefting disorders

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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • CATEL-MANZKE SYNDROME
  • Cleft palate
  • CATMANS

Green TGDS in Hand and foot malformations


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.74

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Catel-Manzke syndrome 616145

    Green TGDS in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Catel-Manzke syndrome, MIM# 616145