IUGR and IGF abnormalities

Gene: OBSL1

Green List (high evidence)

OBSL1 (obscurin like 1)
EnsemblGeneIds (GRCh38): ENSG00000124006
EnsemblGeneIds (GRCh37): ENSG00000124006
OMIM: 610991, Gene2Phenotype
OBSL1 is in 7 panels

3 reviews

Philip Murray (University of Manchester)

Green List (high evidence)

Peter Clayton (University of Manchester)

Green List (high evidence)

Rebecca Foulger (Genomics England curator)

Comment on phenotypes: Updated phenotype field to include current OMIM disorder and ID (MIM:612921).
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