PanelApp (test)
  1. Genes and Genomic Entities
  2. SYNGAP1:Ensemblv115

SYNGAP1:Ensemblv115

synaptic Ras GTPase activating protein 1
OMIM: 603384, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green SYNGAP1 in Angelman Rett like syndromes


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Mental retardation, autosomal dominant 5, MIM# 612621

Green SYNGAP1 in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

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

Green SYNGAP1 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 5 MIM#612621

Green SYNGAP1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Australian Genomics Health Alliance Epilepsy Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Intellectual disability, autosomal dominant 5, MIM # 612621