SUZ12

SUZ12 polycomb repressive complex 2 subunit
OMIM: 606245, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green SUZ12 in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.140

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Imagawa-Matsumoto syndrome, MIM# 618786

Green SUZ12 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Imagawa-Matsumoto syndrome, MIM# 618786

Green SUZ12 in Overgrowth


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.12

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Imagawa-Matsumoto syndrome, MIM# 618786

Green SUZ12 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
  • Expert list
Phenotypes
  • Imagawa-Matsumoto syndrome, MIM# 618786
  • Intellectual disability
  • Overgrowth

Green SUZ12 in Fetal anomalies


Version 1.255

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert list
Phenotypes
  • Imagawa-Matsumoto syndrome #618786