UBE2T:Ensemblv115

ubiquitin conjugating enzyme E2 T
OMIM: 610538, ClinGen, DECIPHER

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green UBE2T in Bone Marrow Failure


Level 2: Haematological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Fanconi anemia, complementation group T, MIM# 616435
Tags
  • SV/CNV

Green UBE2T in Chromosome Breakage Disorders


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Fanconi anemia, complementation group T, MIM# 616435
Tags
  • SV/CNV

Green UBE2T in Radial Ray Abnormalities


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Fanconi anemia, complementation group T, MIM# 616435
Tags
  • SV/CNV

Green UBE2T in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Fanconi anemia, complementation group T, 616435 (3)

Green UBE2T in Growth failure


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • Fanconi anemia, complementation group T, MIM# 616435

Green UBE2T in IBMDx study


Version 1.0

1 review Unknown
Sources
  • Expert list
  • Expert Review Green
  • IBMDx Study
  • Expert Review Green
Phenotypes
  • Fanconi anemia, complementation group T, MIM# 616435

Green UBE2T in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Fanconi anaemia, complementation group T, MIM#616435

Green UBE2T in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Fanconi anaemia, complementation group T, MIM# 616435
Tags
  • treatable
  • haematological

Green UBE2T in Prepair 500+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Fanconi anemia, complementation group T MIM#616435