Activity
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4 actions
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| Monogenic short stature v1.38 | GINS3 | Ida Ertmanska Phenotypes for gene: GINS3 were changed from Meier-Gorlin syndrome like; Meier-Gorlin syndrome, MONDO:0016817 to Meier-Gorlin syndrome like; Meier-Gorlin syndrome, MONDO:0016817; Meier-Gorlin syndrome 9, OMIM:621512 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v1.37 | GINS3 | Ida Ertmanska Tag gene-checked was removed from gene: GINS3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v0.112 | GINS3 | Arina Puzriakova Entity copied from Growth failure in early childhood v3.78 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v0.112 | GINS3 |
Arina Puzriakova gene: GINS3 was added gene: GINS3 was added to Monogenic short stature. Sources: Expert Review Red,Literature gene-checked tags were added to gene: GINS3. 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; Meier-Gorlin syndrome, MONDO:0016817 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 |
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