NID1

nidogen 1
OMIM: 131390, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber NID1 in Joubert syndrome and other neurological ciliopathies


Level 2: Neurology and neurodevelopmental disorders
Version 1.27

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Dandy-Walker malformation and occipital cephalocele
  • Hydrocephalus with or without seizures

Green NID1 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Dandy-Walker malformation and occipital cephalocele
  • Hydrocephalus with or without seizures

Green NID1 in Fetal anomalies


Version 1.255

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Dandy-Walker malformation and occipital cephalocele
  • Hydrocephalus with or without seizures