IUGR and IGF abnormalities
Gene: OBSL1
OBSL1 (obscurin like 1)
EnsemblGeneIds (GRCh38): ENSG00000124006
EnsemblGeneIds (GRCh37): ENSG00000124006
OMIM: 610991, Gene2Phenotype
OBSL1 is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000124006
EnsemblGeneIds (GRCh37): ENSG00000124006
OMIM: 610991, Gene2Phenotype
OBSL1 is in 7 panels
3 reviews
Philip Murray (University of Manchester)
Peter Clayton (University of Manchester)
Rebecca Foulger (Genomics England curator)
Comment on phenotypes: Updated phenotype field to include current OMIM disorder and ID (MIM:612921).Created: 17 Aug 2017, 9:37 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- 3-M syndrome 2, 612921
- OMIM
- 610991
- Clinvar variants
- Variants in OBSL1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
17 Aug 2017, Gel status: 4
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for OBSL1 were set to 3-M syndrome 2, 612921
14 Mar 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
14 Mar 2016, Gel status: 4
Set Phenotypes
emma baple (Genomics England Curator)Phenotypes for OBSL1 were set to 3M syndrome
14 Mar 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
22 Oct 2015, Gel status: 0
Added New Source
Peter Clayton (University of Manchester)OBSL1 was added to IUGR and IGF abnormalitiespanel. Sources: Literature
22 Oct 2015, Gel status: 0
Created
Peter Clayton (University of Manchester)OBSL1 was created by peter.clayton