TENT5A:Ensemblv115

terminal nucleotidyltransferase 5A
OMIM: 611357, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green TENT5A in Osteogenesis Imperfecta and Osteoporosis


Level 2: Skeletal disorders; Endocrine disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Osteogenesis imperfecta, type XVIII, MIM# 617952
Tags
  • new gene name

Green TENT5A in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
  • Expert Review Green
Phenotypes
  • Osteogenesis imperfecta, type XVIII 617952

Green TENT5A in Fetal anomalies


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • Osteogenesis imperfecta, type 18, MONDO:0044329
  • Osteogenesis imperfecta, type XVIII, OMIM:617952
Tags
  • new gene name

Green TENT5A in Transplant Co-Morbidity


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green, Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Osteogenesis imperfecta, type XVIII, MIM# 617952