Mandibulofacial Acrofacial dysostosis
Gene: SNRPB

SNRPB (small nuclear ribonucleoprotein polypeptides B and B1)
EnsemblGeneIds (GRCh38): ENSG00000125835
EnsemblGeneIds (GRCh37): ENSG00000125835
OMIM: 182282, Gene2Phenotype
SNRPB is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Cerebrocostomandibular syndrome (CCMS) is characterized mainly by severe micrognathia, rib defects, and mental retardation. A spectrum of rib gap defects have been reported ranging from a few dorsal rib segments to complete absence of ossification. In about half of the 65 reported cases to date, there is cerebral involvement including mental retardation, microcephaly, and histologic anomalies.

Some of the variants reported are promoter/deep intronic and may not be tractable by all NGS assays.
Created: 8 Aug 2021, 7:28 a.m. | Last Modified: 8 Aug 2021, 7:28 a.m.

Panel Version: 0.91

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cerebrocostomandibular syndrome, MIM# 117650

Publications

Created: 8 Aug 2021, 7:28 a.m.
Last Modified: 8 Aug 2021, 7:28 a.m.
Panel version: 0.91

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Cerebrocostomandibular syndrome, MIM# 117650

Tags

5'UTR deep intronic

OMIM

182282

Clinvar variants

Variants in SNRPB

Penetrance

None

Publications

Panels with this gene