Osteogenesis Imperfecta and Osteoporosis
Gene: TMEM38BEnsemblGeneIds (GRCh38): ENSG00000095209
EnsemblGeneIds (GRCh37): ENSG00000095209
OMIM: 611236, Gene2Phenotype
TMEM38B is in 7 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
More than 10 families reported.
Variable severity, onset of fractures generally in infancy.Created: 27 Mar 2023, 12:39 a.m. | Last Modified: 27 Mar 2023, 12:39 a.m.
Panel Version: 0.99
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
- Victorian Clinical Genetics Services
- Phenotypes
-
- Osteogenesis imperfecta, type XIV , MIM#615066
- OMIM
- 611236
- Clinvar variants
- Variants in TMEM38B
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tmem38b has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TMEM38B were changed from to Osteogenesis imperfecta, type XIV , MIM#615066
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: TMEM38B were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: TMEM38B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 Osteogenesis imperfecta_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TMEM38B was set to Unknown