CWH43:Ensemblv90

cell wall biogenesis 43 C-terminal homolog
ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red CWH43 in Hydrocephalus_Ventriculomegaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.132

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Hydrocephalus MONDO:0001150, CWH43-related
Tags
  • cnv

Red CWH43 in Mendeliome


Version 1.3802

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hydrocephalus MONDO:0001150, CWH43-related
Tags
  • cnv

Red CWH43 in Hydrocephalus_Ventriculomegaly


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Hydrocephalus MONDO:0001150, CWH43-related
Tags
  • cnv