Skeletal Dysplasia_Fetal
Gene: LTBP3EnsemblGeneIds (GRCh38): ENSG00000168056
EnsemblGeneIds (GRCh37): ENSG00000168056
OMIM: 602090, Gene2Phenotype
LTBP3 is in 9 panels
1 review
Krithika Murali (Victorian Clinical Genetics Services)
Antenatal findings of disproportionately restricted length and shortened long bones described.
Sources: LiteratureCreated: 10 Nov 2022, 1:41 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Geleophysic dysplasia 3 - MIM#617809
Publications
- PMID: 27068007
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Geleophysic dysplasia 3 - MIM#617809
- OMIM
- 602090
- Clinvar variants
- Variants in LTBP3
- Penetrance
- None
- Publications
-
- PMID: 27068007
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ltbp3 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ltbp3 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Krithika Murali (Victorian Clinical Genetics Services)gene: LTBP3 was added gene: LTBP3 was added to Skeletal Dysplasia_Fetal. Sources: Literature Mode of inheritance for gene: LTBP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LTBP3 were set to PMID: 27068007 Phenotypes for gene: LTBP3 were set to Geleophysic dysplasia 3 - MIM#617809 Review for gene: LTBP3 was set to GREEN