BRIDGE_SPEED_NEURO_v2.0_20160416
Gene: SNRPB

SNRPB (small nuclear ribonucleoprotein polypeptides B and B1)
EnsemblGeneIds (GRCh38): ENSG00000125835
EnsemblGeneIds (GRCh37): ENSG00000125835
OMIM: 182282, Gene2Phenotype
SNRPB is in 5 panels

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; GEL_ID_green_20160217; neuro_20160418_strict; Loss of function
Created: 7 Feb 2017, 4:57 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Cerebro-costo-mandibular syndrome

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

Created: 7 Feb 2017, 4:57 p.m.

Panel version: 0.2

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

BRIDGE

Phenotypes

Cerebro-costo-mandibular syndrome

OMIM

182282

Clinvar variants

Variants in SNRPB

Penetrance

Complete

Panels with this gene

History Filter Activity

7 Feb 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SNRPB was created by ellenmcdonagh

7 Feb 2017, Gel status: 0

Added New Source