Monogenic short stature
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
2 reviews
Rebecca Foulger (Genomics England curator)
Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that OBSL1 should be included on the panel. Although most skeletal dysplasias are not included in this panel, 3M syndrome is a short stature condition in which skeletal features might be less prominent. Therefore kept rating as Green.Created: 30 May 2019, 9:34 a.m.
Ivone Leong (Genomics England Curator)
This gene is part of a consensus list for SRS/SRS-like testing provided by Frederic Brioude. Suggested initial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: 3M.Created: 14 May 2019, 1:25 p.m.
Phenotypes
3M
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- 3-M syndrome 2, OMIM:612921
- OMIM
- 610991
- Clinvar variants
- Variants in OBSL1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
26 Mar 2024, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: OBSL1 was added gene: OBSL1 was added to Monogenic short stature. Sources: Expert list,Expert Review Green Mode of inheritance for gene: OBSL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OBSL1 were set to 21737058 Phenotypes for gene: OBSL1 were set to 3-M syndrome 2, OMIM:612921