| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.4813 | ATG12 | Zornitza Stark Marked gene: ATG12 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4813 | ATG12 | Zornitza Stark Gene: atg12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4811 | ATG12 | Sangavi Sivagnanasundram edited their review of gene: ATG12: Changed phenotypes: ATG12-related neurodevelopmental disorder, MONDO:0700092 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4811 | ATG12 | Sangavi Sivagnanasundram Phenotypes for gene: ATG12 were changed from Neurodevelopmental disorder, MONDO:0700092 to ATG12-related neurodevelopmental disorder, MONDO:0700092 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4810 | ATG12 | Sangavi Sivagnanasundram Classified gene: ATG12 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4810 | ATG12 | Sangavi Sivagnanasundram Gene: atg12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4809 | ATG12 |
Sangavi Sivagnanasundram gene: ATG12 was added gene: ATG12 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: ATG12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATG12 were set to 41895291 Phenotypes for gene: ATG12 were set to Neurodevelopmental disorder, MONDO:0700092 Review for gene: ATG12 was set to GREEN Added comment: PMID 41895291 reports six individuals from five unrelated families with biallelic loss-of-function ATG12 variants causing a childhood‑onset neurodevelopmental disorder characterized by developmental delay, intellectual disability, congenital ataxia, hypotonia, seizures and cerebellar vermis hypoplasia. The paper reports on functional evidence supportive of pathogenicity. Note: one of the reported variants (c.363+3A>T) had an FAF of 0.01706% in gnomAD and hasn't been reported in any other affected individuals. Sources: Literature |
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