Genomics England
GMS Panels
Panels
Genes and Entities

SUZ12

SUZ12 polycomb repressive complex 2 subunit
OMIM: 606245
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Weaver-like overgrowth syndrome
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Weaver-like overgrowth syndrome, Imagawa-Matsumoto syndrome #618786
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Imagawa-Matsumoto syndrome 618786
Green
in Segmental overgrowth disorders - Deep sequencing
R-numbers: R110
Signed-off version 3.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Imagawa-Matsumoto syndrome 618786