| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Intellectual disability syndromic and non-syndromic v2.14 | SMG5 | Zornitza Stark Marked gene: SMG5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v2.14 | SMG5 | Zornitza Stark Gene: smg5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v2.14 | Zornitza Stark Copied gene SMG5 from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v2.14 | SMG5 |
Zornitza Stark gene: SMG5 was added gene: SMG5 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Red,Literature Mode of inheritance for gene: SMG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMG5 were set to 41758221 Phenotypes for gene: SMG5 were set to Neurodevelopmental disorder, MONDO:0700092, SMG5-related |
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| Intellectual disability syndromic and non-syndromic v2.0 | ATP5MK | Gene symbol changed from USMG5 to ATP5MK during gene set migration (ENSG00000173915 -> ENSG00000173915) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v1.540 | USMG5 | Zornitza Stark Marked gene: USMG5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v1.540 | USMG5 | Zornitza Stark Gene: usmg5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v1.540 | Zornitza Stark Copied gene USMG5 from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v1.540 | USMG5 |
Zornitza Stark gene: USMG5 was added gene: USMG5 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Amber,Literature Mode of inheritance for gene: USMG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: USMG5 were set to 29917077; 30240627; 40014158 Phenotypes for gene: USMG5 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6 MIM#618683 |
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