TMEM38B

transmembrane protein 38B
OMIM: 611236, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green TMEM38B in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.244

1 review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship

Green TMEM38B in Mendeliome


Version 1.3795

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteogenesis imperfecta, type XIV, MIM# 615066

Green TMEM38B in Osteogenesis Imperfecta and Osteoporosis


Level 2: Skeletal disorders; Endocrine disorders
Version 1.16

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteogenesis imperfecta, type XIV , MIM#615066

Green TMEM38B in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.364

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteogenesis imperfecta, type XIV 615066
  • osteogenesis imperfecta
  • Osteogenesis imperfecta, type XIV, 615066

Green TMEM38B in Fetal anomalies


Version 1.481

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Osteogenesis imperfecta, type XIV, OMIM:615066
  • Osteogenesis imperfecta type 14, MONDO:0014029

Green TMEM38B in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 1.141

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Osteogenesis imperfecta, type XIV , MIM#615066
Tags
  • treatable
  • skeletal

Green TMEM38B in Transplant Co-Morbidity


Level 2: Screening
Version 0.20

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteogenesis imperfecta, type XIV , MIM#615066