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  3. SNRPB
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Skeletal dysplasia

Gene: SNRPB

Green List (high evidence)
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, 7:31 a.m. | Last Modified: 8 Aug 2021, 7:31 a.m.
Panel Version: 0.8690

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cerebrocostomandibular syndrome, MIM# 117650

Publications

Created: 8 Aug 2021, 7:31 a.m.
Last Modified: 8 Aug 2021, 7:31 a.m.
Panel version: Imported from Mendeliome panel version 0.8690

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Cerebrocostomandibular syndrome 117650
OMIM
182282
Clinvar variants
Variants in SNRPB
Penetrance
None
Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SNRPB was added gene: SNRPB was added to Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green Mode of inheritance for gene: SNRPB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SNRPB were set to Cerebrocostomandibular syndrome 117650