1. Genes and Genomic Entities
  2. NID1

NID1

nidogen 1
OMIM: 131390, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber NID1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Hydrocephalus with or without seizures
  • Dandy-Walker malformation and occipital cephalocele
Red NID1 in Early onset or syndromic epilepsy


Level 2: Neurology
Version 8.125
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Red
    • Literature
    Phenotypes
    • Hydrocephalus, focal epilepsy and hemiparesis