Cytopenias and congenital anaemias
Gene: RAD21
RAD21 (RAD21 cohesin complex component)
EnsemblGeneIds (GRCh38): ENSG00000164754
EnsemblGeneIds (GRCh37): ENSG00000164754
OMIM: 606462, Gene2Phenotype
RAD21 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000164754
EnsemblGeneIds (GRCh37): ENSG00000164754
OMIM: 606462, Gene2Phenotype
RAD21 is in 14 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: COSMIC census lists somatic RAD21 variants for AML, endometrium, colorectal and lung cancers. (Associated with phenotype Cornelia de Lange syndrome 4 614701 in OMIM and as a confirmed G2P. At least 2 variants reported in 2 cases. PHENOTYPE NOT RELEVANT TO THIS PANEL)Created: 9 Mar 2017, 2:54 p.m.
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
Unknown
Phenotypes
Acute myeloid leukaemia (AML); Especially in Down syndrome AML
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- BRIDGE consortium (NIHRBR-RD)
- Phenotypes
-
- Acute myeloid leukaemia (AML)
- Especially in Down syndrome AML
- Tags
- OMIM
- 606462
- Clinvar variants
- Variants in RAD21
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Cytopenias and congenital anaemias
- DDG2P
- IUGR and IGF abnormalities
- Haematological malignancies cancer susceptibility
- Gastrointestinal neuromuscular disorders
- Skeletal dysplasia
- Fetal anomalies
- Clefting
- Severe microcephaly
- Paediatric pseudo-obstruction syndrome
- Monogenic short stature
- Holoprosencephaly - NOT chromosomal
- Radial dysplasia
- Intellectual disability
History Filter Activity
11 Mar 2017, Gel status: 1
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
9 Mar 2017, Gel status: 1
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
9 Mar 2017, Gel status: 0
Set publications
Sarah Leigh (Genomics England Curator)Publications for RAD21 were set to 25006131; 24904756
17 Feb 2017, Gel status: 0
Added New Source
Louise Daugherty (Genomics England Curator)RAD21 was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)
17 Feb 2017, Gel status: 0
Created
Louise Daugherty (Genomics England Curator)RAD21 was created by LouiseD