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  2. Growth failure in early childhood
  3. OBSL1
STRs in panel
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Growth failure in early childhood

Gene: OBSL1

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

2 reviews

Rebecca Foulger (Genomics England curator)

I don't know

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.
Created: 30 May 2019, 9:34 a.m.

Panel version: 0.21

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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

Created: 14 May 2019, 1:25 p.m.

Panel version: 0.17

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
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

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: OBSL1 were changed from 3M; 3-M syndrome 2, 612921 to 3-M syndrome 2, OMIM:612921

14 May 2019, Gel status: 4

Added New Source, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source Expert list was added to OBSL1. Added phenotypes 3M for gene: OBSL1

14 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: OBSL1 was added gene: OBSL1 was added to Growth failure in early childhood. Sources: 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, 612921