This Panel is marked as Internal
Anaemias and red cell disorders
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
1 review
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
-
- Phenotypes
-
- Acute myeloid leukaemia (AML)
- Especially in Down syndrome AML
- OMIM
- 606462
- Clinvar variants
- Variants in RAD21
- Penetrance
- Complete
- Panels with this gene
-
- Radial dysplasia
- Cytopenias and congenital anaemias
- DDG2P
- IUGR and IGF abnormalities
- Haematological malignancies cancer susceptibility
- Gastrointestinal neuromuscular disorders
- Intellectual disability
- Holoprosencephaly - NOT chromosomal
- Fetal anomalies
- Severe microcephaly
- Paediatric pseudo-obstruction syndrome
- Monogenic short stature
- Skeletal dysplasia
- Clefting
History Filter Activity
16 Jan 2017, Gel status: 0
Approved Gene
Louise Daugherty (Genomics England Curator)This proposed gene was validated and added to this panel
16 Jan 2017, Gel status: 0
Added New Source
BRIDGE consortium (NIHRBR-RD)RAD21 was added to Anaemias and red cell disorderspanel. Sources: BRIDGE consortium (NIHRBR-RD)
16 Jan 2017, Gel status: 0
Created
BRIDGE consortium (NIHRBR-RD)RAD21 was created by BRIDGE