1. Panels
  2. Fetal anomalies
  3. RAD21
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Fetal anomalies

Gene: RAD21

Green List (high evidence)
RAD21 (RAD21 cohesin complex component)
EnsemblGeneIds (GRCh38): ENSG00000164754
EnsemblGeneIds (GRCh37): ENSG00000164754
OMIM: 606462, Gene2Phenotype
RAD21 is in 13 panels

2 reviews

Arina Puzriakova (Genomics England)

PMID: 32696056 (2020) - fourth unrelated individual reported presenting holoprosencephaly associated with a heterozygous RAD21 LoF variant
Created: 14 Sep 2021, 3:38 p.m. | Last Modified: 14 Sep 2021, 3:38 p.m.
Panel Version: 1.1

Publications

Created: 14 Sep 2021, 3:38 p.m.
Last Modified: 14 Sep 2021, 3:38 p.m.
Panel version: Imported from Holoprosencephaly and septo-optic dysplasia panel version 1.1

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Diaphragmatic hernia is a feature of CdL, at least one individual specifically reported with RAD21 variant.
Created: 21 Jun 2021, 7:39 a.m. | Last Modified: 21 Jun 2021, 7:39 a.m.
Panel Version: 0.68

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cornelia de Lange syndrome 4, MIM# 614701

Publications

Created: 21 Jun 2021, 7:39 a.m.
Last Modified: 21 Jun 2021, 7:39 a.m.
Panel version: Imported from Congenital diaphragmatic hernia panel version 0.68

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Cornelia de Lange syndrome 4, MIM# 614701
  • Holoprosencephaly
OMIM
606462
Clinvar variants
Variants in RAD21
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rad21 has been classified as Green List (High Evidence).

1 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RAD21 were changed from COHESINOPATHY to Cornelia de Lange syndrome 4, MIM# 614701; Holoprosencephaly

1 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RAD21 were set to

1 Mar 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RAD21 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RAD21 was added gene: RAD21 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: RAD21 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RAD21 were set to COHESINOPATHY