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Skeletal dysplasia

Gene: TMEM38B

Green List (high evidence)

TMEM38B (transmembrane protein 38B)
EnsemblGeneIds (GRCh38): ENSG00000095209
EnsemblGeneIds (GRCh37): ENSG00000095209
OMIM: 611236, Gene2Phenotype
TMEM38B is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 3 Apr 2022, 8:47 a.m. | Last Modified: 3 Apr 2022, 8:47 a.m.
Panel Version: 0.12489

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteogenesis imperfecta, type XIV, MIM# 615066

Publications

Details

Mode of Inheritance
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
OMIM
611236
Clinvar variants
Variants in TMEM38B
Penetrance
None
Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TMEM38B was added gene: TMEM38B was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert,Expert Review Green Mode of inheritance for gene: TMEM38B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM38B were set to Osteogenesis imperfecta, type XIV 615066; osteogenesis imperfecta; Osteogenesis imperfecta, type XIV, 615066