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| Growth failure in early childhood v1.107 | GINS2 | Ivone Leong Classified gene: GINS2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.107 | GINS2 | Ivone Leong Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.107 | GINS2 | Ivone Leong Gene: gins2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.106 | GINS2 | Ivone Leong Phenotypes for gene: GINS2 were changed from Meier-Gorlin syndrome like to Meier-Gorlin syndrome like; Meier-Gorlin syndrome, MONDO:0016817 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.105 | GINS2 |
Dmitrijs Rots gene: GINS2 was added gene: GINS2 was added to Growth failure in early childhood. Sources: Literature 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 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 Review for gene: GINS2 was set to AMBER Added comment: 1 patient with biallelic variant and functional studies reported in pmid:34353863 Sources: Literature |
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