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| Growth failure in early childhood v2.35 | GINS3 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: GINS3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.109 | GINS3 | Ivone Leong Phenotypes for gene: GINS3 were changed from Meier-Gorlin syndrome like to Meier-Gorlin syndrome like; Meier-Gorlin syndrome, MONDO:0016817 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.108 | GINS3 | Ivone Leong Classified gene: GINS3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.108 | GINS3 | 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 enough evidence to support a gene-disease association; however, other genes associated with Meier-Gorlin syndrome has been given a Red rating in this panel (Growth failure) due to the phenotype not fitting the scope of this panel. Therefore, this gene has been given a Red rating and will be moved to the Severe microcephaly panel (panel ID: 162), where it should be promoted to be Green status at the next review. GINS3 variants might act in a dominant-negative way. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.108 | GINS3 | Ivone Leong Gene: gins3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.105 | GINS3 |
Dmitrijs Rots gene: GINS3 was added gene: GINS3 was added to Growth failure in early childhood. Sources: Literature Mode of inheritance for gene: GINS3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GINS3 were set to 35603789 Phenotypes for gene: GINS3 were set to Meier-Gorlin syndrome like Penetrance for gene: GINS3 were set to unknown Mode of pathogenicity for gene: GINS3 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: GINS3 was set to GREEN Added comment: 7 individuals from 5 families with hypomorphic variant affecting same codon p.D24 with functional evidence reported in PMID:35603789. Enough evidence for green list. Sources: Literature |
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