Severe microcephaly
Gene: GINS2This gene has been copied from the Growth failure panel (panel ID:473), as the Severe microcephaly panel appears to be a better fit for the phenotype. As there is only 1 reported case this gene has been given a Red rating.Created: 29 Jul 2022, 11:03 a.m. | Last Modified: 29 Jul 2022, 11:03 a.m.
Panel Version: 2.310
Comment on list classification: New gene added by Dmitrijs Rots (RadboudUMC). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is currently not enough evidence to support a gene-disease association and other genes associated with Meier-Gorlin syndrome has been given a Red rating in this panel due to the phenotype being not fitting the scope of this panel. Therefore, this gene has been given a Red rating.Created: 29 Jul 2022, 11 a.m. | Last Modified: 29 Jul 2022, 11:02 a.m.
Panel Version: 2.310
1 patient with biallelic variant and functional studies reported in pmid:34353863
Sources: LiteratureCreated: 25 May 2022, 2:52 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Meier-Gorlin syndrome like
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
gene: GINS2 was added gene: GINS2 was added to Severe microcephaly. Sources: Literature,Expert Review Red Mode of inheritance for gene: GINS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GINS2 were set to 34353863 Phenotypes for gene: GINS2 were set to Meier-Gorlin syndrome like; Meier-Gorlin syndrome, MONDO:0016817 Penetrance for gene: GINS2 were set to unknown Mode of pathogenicity for gene: GINS2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments