| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Leukodystrophy - adult onset v0.50 | EARS2 | Zornitza Stark Marked gene: EARS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - adult onset v0.50 | EARS2 | Zornitza Stark Gene: ears2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - adult onset v0.50 | EARS2 | Zornitza Stark Phenotypes for gene: EARS2 were changed from Combined oxidative phosphorylation deficiency 12, 614924 to Combined oxidative phosphorylation deficiency 12, 614924; Leukoencephalopathy with thalamus and brainstem involvement and high lactate | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - adult onset v0.49 | EARS2 | Zornitza Stark Publications for gene: EARS2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - adult onset v0.48 | EARS2 | Zornitza Stark Classified gene: EARS2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - adult onset v0.48 | EARS2 | Zornitza Stark Gene: ears2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - adult onset v0.47 | EARS2 | Zornitza Stark edited their review of gene: EARS2: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - adult onset v0.47 | EARS2 | Zornitza Stark reviewed gene: EARS2: Rating: ; Mode of pathogenicity: None; Publications: 22492562, 23008233, 25854774, 26619324, 26893310; Phenotypes: Combined oxidative phosphorylation deficiency 12, MIM# 614924, Leukoencephalopathy with thalamus and brainstem involvement and high lactate; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - adult onset v0.0 | EARS2 |
Bryony Thompson gene: EARS2 was added gene: EARS2 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: EARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EARS2 were set to Combined oxidative phosphorylation deficiency 12, 614924 |
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