Mandibulofacial Acrofacial dysostosis

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, 7:28 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

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

History Filter Activity

8 Aug 2021, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag 5'UTR tag was added to gene: SNRPB. Tag deep intronic tag was added to gene: SNRPB.

8 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: snrpb has been classified as Green List (High Evidence).

8 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SNRPB were changed from to Cerebrocostomandibular syndrome, MIM# 117650

8 Aug 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SNRPB were set to

8 Aug 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SNRPB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SNRPB was added gene: SNRPB was added to Mandibulofacial Acrofacial dysostosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SNRPB was set to Unknown