Osteogenesis imperfecta
Gene: FBN1
FBN1 (fibrillin 1)
EnsemblGeneIds (GRCh38): ENSG00000166147
EnsemblGeneIds (GRCh37): ENSG00000166147
OMIM: 134797, Gene2Phenotype
FBN1 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000166147
EnsemblGeneIds (GRCh37): ENSG00000166147
OMIM: 134797, Gene2Phenotype
FBN1 is in 14 panels
2 reviews
Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)
Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)
Remove from panelCreated: 27 Nov 2015, 3:04 p.m.
Details
- Sources
-
- Expert Review Removed
- Emory Genetics Laboratory
- Phenotypes
-
- Disproportionate Short Stature
- Tags
- OMIM
- 134797
- Clinvar variants
- Variants in FBN1
- Penetrance
- Complete
- Panels with this gene
-
- Ehlers Danlos syndrome with a likely monogenic cause
- Thoracic aortic aneurysm or dissection (GMS)
- Skeletal dysplasia
- Intellectual disability
- Fetal anomalies
- Severe insulin resistance and lipodystrophy syndromes
- Bilateral congenital or childhood onset cataracts
- Structural eye disease
- Osteogenesis imperfecta
- Thoracic aortic aneurysm or dissection
- Cerebral vascular malformations
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Pneumothorax - familial
- DDG2P
History Filter Activity
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: FBN1.
12 May 2016, Gel status: 0
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
12 May 2016, Gel status: 0
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
20 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)FBN1 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory