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| Genetic Epilepsy v0.760 | MDH1 | Zornitza Stark Phenotypes for gene: MDH1 were changed from epilepsy; microcephaly; intellectual disability to epilepsy; microcephaly; intellectual disability; Epileptic encephalopathy, early infantile, 88, MIM#618959 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.759 | MDH1 | Zornitza Stark reviewed gene: MDH1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31538237,; Phenotypes: Epileptic encephalopathy, early infantile, 88, MIM#618959; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.177 | MDH1 | Sue White Marked gene: MDH1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.177 | MDH1 | Sue White Gene: mdh1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.177 | MDH1 | Sue White Classified gene: MDH1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.177 | MDH1 | Sue White Gene: mdh1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.176 | MDH1 |
Sue White gene: MDH1 was added gene: MDH1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature Mode of inheritance for gene: MDH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MDH1 were set to 31538237 Phenotypes for gene: MDH1 were set to epilepsy; microcephaly; intellectual disability Penetrance for gene: MDH1 were set to Complete Added comment: single consanguinous family with biallelic missense variant in this gene and epilepsy, microcephaly, ID Sources: Literature |
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