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  3. TMEM38B
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Skeletal Dysplasia_Fetal

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

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Multiple families reported from different ethic gorups with OI. Some reported with first fracture as prenatal onset. Most had variable degrees of severity of multiple fractures and osteopenia. Suitable for fetal anomalies panel.
Created: 14 Jan 2022, 3:40 a.m. | Last Modified: 14 Jan 2022, 3:40 a.m.
Panel Version: 0.2187

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteogenesis imperfecta, type XIV , OMIM #615066

Publications

Created: 14 Jan 2022, 3:40 a.m.
Last Modified: 14 Jan 2022, 3:40 a.m.
Panel version: Imported from Fetal anomalies panel version 0.2187

Details

Mode of Inheritance
Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
OMIM
611236
Clinvar variants
Variants in TMEM38B
Penetrance
None
Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TMEM38B was added gene: TMEM38B was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TMEM38B was set to Unknown