Severe microcephaly

Gene: RAD21

Green List (high evidence)

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

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Created: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Red to Green: Confirmed DD-G2P gene for 'Conelia de Lange syndrome'. >3 reported cases for CDLS, including at least 3 patients where microcephaly is specifically reported.
Created: 2 Mar 2017, 12:30 p.m.
Confirmed DD-G2P gene for 'Conelia de Lange syndrome'. 2 cases of RAD21 variants causing CDLS on OMIM: both patients have microcephaly. Additional case of RAD21 causing Cornelia de Lange comes from PMID:24378232: 2 patients presenting with atypical CdLS. One patient had an in-frame deletion of exon 13, while the 2nd patient had a c.592_593dup frameshift mutation. Patient 2 had microcephaly.
Created: 2 Mar 2017, noon
ALthough the Cornelia de Lange syndromes (CDLS) are not part of the primary dwarfism spectrum and typically present with additional features other than microcephaly, they are included in this panel after clinical discussion, since a small proportion of cases may overlap with the microcephaly primary dwarfism spectrum.
Created: 2 Mar 2017, noon
Marked as incomplete penetrance based on genotype:phenotype described in PMID:27882533.
Created: 2 Mar 2017, noon

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Cornelia de Lange syndrome 4, 614701 (includes microcephaly)
OMIM
606462
Clinvar variants
Variants in RAD21
Penetrance
Incomplete
Publications
Panels with this gene

History Filter Activity

29 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to RAD21.

2 Mar 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.

2 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

2 Mar 2017, Gel status: 0

Set publications

Rebecca Foulger (Genomics England curator)

Publications for RAD21 were set to 22633399; 24378232; 27882533

2 Mar 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

RAD21 was created by rfoulger

2 Mar 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

RAD21 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Literature