SNRPB

small nuclear ribonucleoprotein polypeptides B and B1
OMIM: 182282, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green SNRPB in Mandibulofacial Acrofacial dysostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.10

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Cerebrocostomandibular syndrome, MIM# 117650
Tags
  • 5'UTR
  • deep intronic

Green SNRPB in Mendeliome


Version 2.742

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Cerebrocostomandibular syndrome, MIM# 117650
Tags
  • 5'UTR
  • deep intronic

Green SNRPB in Pierre Robin Sequence


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.7

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green SNRPB in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.203

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Disease associations
  • Cerebrocostomandibular syndrome, MIM# 117650

Green SNRPB in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.160

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • NHS GMS
  • Victorian Clinical Genetics Services
Disease associations
  • Cerebrocostomandibular syndrome 117650

Green SNRPB in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • cerebrocostomandibular syndrome, MONDO:0007301

Green SNRPB in Fetal anomalies


Version 2.105

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Disease associations
  • Cerebrocostomandibular syndrome, MIM# 117650