| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Intellectual disability syndromic and non-syndromic v0.5372 | ATP5E | Zornitza Stark Tag new gene name tag was added to gene: ATP5E. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5372 | ATP5E | Zornitza Stark Marked gene: ATP5E as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5372 | ATP5E | Zornitza Stark Gene: atp5e has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5372 | ATP5E | Zornitza Stark Classified gene: ATP5E as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5372 | ATP5E | Zornitza Stark Gene: atp5e has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4486 | ATP5E |
Ain Roesley gene: ATP5E was added gene: ATP5E was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: ATP5E was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP5E were set to 34954817; 20566710; 27626380; 20026007 Phenotypes for gene: ATP5E were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 MIM#614053 Penetrance for gene: ATP5E were set to Complete Review for gene: ATP5E was set to AMBER gene: ATP5E was marked as current diagnostic Added comment: 3 unrelated with the same Tyr12Cys avriant 3/3 with dev delay. 2/3 with ID (the other NA) Sources: Literature |
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