SNAPIN:Ensemblv90

SNAP associated protein
OMIM: 607007, ClinGen, DECIPHER

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green SNAPIN in Cerebellar and Pontocerebellar Hypoplasia


Level 2: Neurology and neurodevelopmental disorders
Version 1.92

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, MIM# 621393

Green SNAPIN in Mendeliome


Version 1.3802

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, MIM# 621393

Green SNAPIN in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.376

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, MIM# 621393

Green SNAPIN in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 0.578

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, MIM# 621393

Green SNAPIN in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.508

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, MIM# 621393

Green SNAPIN in Fetal anomalies


Version 1.482

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, MIM# 621393

Green SNAPIN in Cerebellar and Pontocerebellar Hypoplasia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Literature
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, MIM# 621393

Green SNAPIN in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, MIM# 621393

Green SNAPIN in Fetal anomalies


Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, MIM# 621393