Genomics England
GMS Panels
Panels
Genes and Entities

SMC5

structural maintenance of chromosomes 5
OMIM: 609386
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SMC5-related developmental disorder
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Atelis syndrome 2, OMIM:620185