TMEM38B:Ensemblv115

transmembrane protein 38B
OMIM: 611236, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green TMEM38B in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 1.0

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

Green TMEM38B 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 XIV , MIM#615066

Green TMEM38B in Skeletal dysplasia

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

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

Green TMEM38B in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

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

Green TMEM38B in Transplant Co-Morbidity


Level 2: Screening
Version 1.0

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