Genomics England
GMS Panels
Panels
Genes and Entities

RAD21

RAD21 cohesin complex component
OMIM: 606462
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
COHESINOPATHY 614701
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
COHESINOPATHY
Green
in Holoprosencephaly
Component of the following Super Panels:
  • - Cerebral malformations
R-numbers: R85
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cornelia de Lange syndrome 4, OMIM:614701, Holoprosencephaly with or without CdLS features, Septo-optic dysplasia
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cornelia de Lange syndrome 4, 614701, COHESINOPATHY
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cornelia de Lange syndrome 4, 614701 (includes microcephaly)