CYHR1

cysteine and histidine rich 1
OMIM: 616635, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green CYHR1 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, ZTRAF1-related
Tags
  • new gene name

Amber CYHR1 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.269

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Neurodevelopmental disorder and microcephaly, MONDO:0700092, CYHR1-related
Tags
  • new gene name

Green CYHR1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Neurodevelopmental disorder and microcephaly, MONDO:0700092, CYHR1-related
Tags
  • new gene name