This Panel is marked as Deleted
GMS Musculoskeletal specialist test group Skeletal dysplasia
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
Tracy Lester (Genetics laboratory, Oxford UK)
Limb hypoplasia-reduction defects gp of SD- >3 cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:52 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cornelia de Lange syndrome 4 614701
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Cornelia de Lange syndrome 4 614701
- OMIM
- 606462
- Clinvar variants
- Variants in RAD21
- Penetrance
- None
- Panels with this gene
-
- Radial dysplasia
- Haematological malignancies cancer susceptibility
- Holoprosencephaly - NOT chromosomal
- Intellectual disability
- IUGR and IGF abnormalities
- Cytopenias and congenital anaemias
- Severe microcephaly
- Clefting
- Gastrointestinal neuromuscular disorders
- Fetal anomalies
- DDG2P
- Skeletal dysplasia
- Paediatric pseudo-obstruction syndrome
- Monogenic short stature
History Filter Activity
6 Mar 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: RAD21 was added gene: RAD21 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: RAD21 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RAD21 were set to Cornelia de Lange syndrome 4 614701