Radial dysplasia

Gene: RAD21

Amber List (moderate evidence)

RAD21 (RAD21 cohesin complex component)
EnsemblGeneIds (GRCh38): ENSG00000164754
EnsemblGeneIds (GRCh37): ENSG00000164754
OMIM: 606462, Gene2Phenotype
RAD21 is in 9 panels

4 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Only two cases to date. Watchlisted. In view of CdLS phenotype being associated with variable limb defects, it would be an appropriate phenotype for radial dysplasia but further evidence for causation needed.
Created: 11 May 2017, 12:44 p.m.
Comment on list classification: Two cases reported to date. Watchlist.
Created: 11 May 2017, 12:41 p.m.

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)

Green List (high evidence)

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

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 3
Created: 17 Jun 2016, 8:07 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cornelia de Lange syndrome 4 614701

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Cornelia de Lange syndrome 4, 614701
Tags
watchlist
OMIM
606462
Clinvar variants
Variants in RAD21
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

23 May 2017, Gel status: 2

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

23.05.2017: Panel revised and approved to Version 1.0 after expert review.

11 May 2017, Gel status: 2

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

11 May 2017, Gel status: 2

Set publications

Helen Brittain (Genomics England Curator)

Publications for RAD21 were set to 22633399

11 May 2017, Gel status: 2

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

5 Dec 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

RAD21 was created by rfoulger

5 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

RAD21 was added to Radial dysplasiapanel. Sources: Other