SNAPIN

SNAP associated protein
OMIM: 607007, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green SNAPIN in Cerebellar and Pontocerebellar Hypoplasia


Level 2: Neurology and neurodevelopmental disorders
Version 1.94

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 1.3835

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 1.381

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 0.580

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 1.525

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 1.489

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