IUGR and IGF abnormalities
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
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Other
- Literature
- Phenotypes
-
- Cornelia De Lange
- OMIM
- 606462
- Clinvar variants
- Variants in RAD21
- Penetrance
- Complete
- Panels with this gene
-
- Paediatric pseudo-obstruction syndrome
- Fetal anomalies
- Radial dysplasia
- Holoprosencephaly
- Skeletal dysplasia
- Haematological malignancies cancer susceptibility
- Monogenic short stature
- Severe microcephaly
- IUGR and IGF abnormalities
- Intellectual disability
- DDG2P
- Cytopenias and congenital anaemias
- Gastrointestinal neuromuscular disorders
- Clefting
History Filter Activity
10 May 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
10 May 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
10 May 2016, Gel status: 0
Added New Source
emma baple (Genomics England Curator)RAD21 was added to IUGR and IGF abnormalitiespanel. Sources: Literature,Other
10 May 2016, Gel status: 0
Created
emma baple (Genomics England Curator)RAD21 was created by ebapleC