Osteogenesis imperfecta
Gene: CUL7
CUL7 (cullin 7)
EnsemblGeneIds (GRCh38): ENSG00000044090
EnsemblGeneIds (GRCh37): ENSG00000044090
OMIM: 609577, Gene2Phenotype
CUL7 is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000044090
EnsemblGeneIds (GRCh37): ENSG00000044090
OMIM: 609577, Gene2Phenotype
CUL7 is in 7 panels
3 reviews
Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)
Christine Burren (University Hospitals Bristol NHS Foundation Trust)
This gene is associated with Short Stature Syndromes as opposed to the Osteogenesis Imperfecta phenotype.Created: 14 Dec 2015, 10:13 a.m.
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
-
- Proportionate Short Stature/Small for Gestational Age
- Disproportionate Short Stature
- Tags
- OMIM
- 609577
- Clinvar variants
- Variants in CUL7
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: CUL7.
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)CUL7 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory