TRIO:Ensemblv115

trio Rho guanine nucleotide exchange factor
OMIM: 601893, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red TRIO in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Red
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 44, with microcephaly MIM#617061

Green TRIO in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 44, with microcephaly MIM#617061
  • Intellectual developmental disorder, autosomal dominant 63, with macrocephaly MIM#618825

Green TRIO in Genetic Epilepsy


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 44, with microcephaly MIM#617061
  • Intellectual developmental disorder, autosomal dominant 63, with macrocephaly MIM#618825

Green TRIO in Fetal anomalies


Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Genetic Health Queensland
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • Mental retardation, autosomal dominant 44, MIM# 617061