Severe microcephaly

Gene: RAD21

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

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