CRNKL1

crooked neck pre-mRNA splicing factor 1
OMIM: 610952, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green CRNKL1 in Cerebellar and Pontocerebellar Hypoplasia


Level 2: Neurology and neurodevelopmental disorders
Version 1.65

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • complex neurodevelopmental disorder MONDO:0100038

Green CRNKL1 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • complex neurodevelopmental disorder MONDO:0100038

Green CRNKL1 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.269

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • complex neurodevelopmental disorder MONDO:0100038

Green CRNKL1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • complex neurodevelopmental disorder MONDO:0100038