Mandibulofacial Acrofacial dysostosis
Gene: SNRPB
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
Tag 5'UTR tag was added to gene: SNRPB. Tag deep intronic tag was added to gene: SNRPB.
Gene: snrpb has been classified as Green List (High Evidence).
Phenotypes for gene: SNRPB were changed from to Cerebrocostomandibular syndrome, MIM# 117650
Publications for gene: SNRPB were set to
Mode of inheritance for gene: SNRPB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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