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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 10 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Also one family reported with biallelic inheritance, Mungan syndrome (MIM:611376).
Created: 4 Apr 2019, 10:28 a.m.
DDG2P rating in original PAGE list: Confirmed for COHESINOPATHY
Created: 11 Dec 2018, 9:05 a.m.


History Filter Activity

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: RAD21 was added gene: RAD21 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RAD21 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RAD21 were set to COHESINOPATHY