Skeletal dysplasia

Gene: SNRPB

The recent MOI update on this panel was done following an audit of genes with different MOIs on component panels of the same superpanel. These were reviewed by the curation team accounting for respective panel scope and final MOIs were validated by the Genomics England clinical team.

Created: 3 Aug 2022, 3:33 p.m. | Last Modified: 3 Aug 2022, 3:33 p.m.

Panel Version: 2.208

Green List (high evidence)

Dysostoses with predominant vertebral with and without costal involvement gp of SD. Several cases; Review on behalf of Tracy Lester

Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Cerebrocostomandibular syndrome 117650

I don't know

The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.

Created: 6 Mar 2022, 7:01 p.m. | Last Modified: 6 Mar 2022, 7:01 p.m.

Panel Version: 2.186

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: SNRPB; Initial rating suggestion: green

Created: 6 Mar 2019, 11:37 a.m.

Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least five variants reported

Created: 1 Aug 2016, 7:09 a.m.

Green List (high evidence)

Tier 1

Created: 17 Jun 2016, 8:08 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Cerebrocostomandibular syndrome 117650

Variants in this GENE are reported as part of current diagnostic practice