PanelApp
  1. Genes and Genomic Entities
  2. CPSF3

CPSF3

cleavage and polyadenylation specific factor 3
OMIM: 606029, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green CPSF3 in Mendeliome


Version 1.3512

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with microcephaly, hypotonia, and seizures (NEDMHS), MIM#619876

Green CPSF3 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.357

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with microcephaly, hypotonia, and seizures (NEDMHS), MIM#619876

Green CPSF3 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.267

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with microcephaly, hypotonia, and seizures (NEDMHS), MIM#619876

    Green CPSF3 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with microcephaly, hypotonia, and seizures (NEDMHS), MIM#619876