CECR2

CECR2, histone acetyl-lysine reader
OMIM: 607576, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green CECR2 in Mendeliome


Version 1.4935

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, CECR2-related
  • neural tube defects, susceptibility to MONDO:0020705, CECR2-related

Green CECR2 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.441

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, CECR2-related
  • neural tube defects, susceptibility to MONDO:0020705, CECR2-related

Green CECR2 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.420

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Expert Review Green
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder, MONDO:0700092, CECR2-related
    • neural tube defects, susceptibility to MONDO:0020705, CECR2-related

    Green CECR2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.807

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Expert Review Green
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder, MONDO:0700092, CECR2-related
    • neural tube defects, susceptibility to MONDO:0020705, CECR2-related