Skeletal dysplasia
Gene: SNRPBThe 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
Dysostoses with predominant vertebral with and without costal involvement gp of SD. Several cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cerebrocostomandibular syndrome 117650
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: greenCreated: 6 Mar 2019, 11:37 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least five variants reportedCreated: 1 Aug 2016, 7:09 a.m.
Tier 1Created: 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
Mode of inheritance for gene SNRPB was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Cerebrocostomandibular syndrome 117650 for gene: SNRPB
Source NHS GMS was added to SNRPB. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for SNRPB were set to Cerebrocostomandibular syndrome 117650
Mode of inheritance for SNRPB was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
SNRPB was added to Unexplained skeletal dysplasiapanel. Sources: Expert list
SNRPB was added to Unexplained skeletal dysplasiapanel. Sources:
SNRPB was created by sleigh