Monogenic short stature
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
Rebecca Foulger (Genomics England curator)
Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that this gene was outside the scope of this clinical indication. Therefore demoted gene from Green to Red.Created: 30 May 2019, 9:49 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Cornelia de Lange syndrome 4, OMIM:614701
- OMIM
- 606462
- Clinvar variants
- Variants in RAD21
- Penetrance
- None
- 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
26 Mar 2024, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: RAD21 was added gene: RAD21 was added to Monogenic short stature. Sources: Expert Review Red 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, OMIM:614701