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| Progressive Myoclonic Epilepsy v0.6 | AFG3L2 | Bryony Thompson Classified gene: AFG3L2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.6 | AFG3L2 | Bryony Thompson Gene: afg3l2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.3 | AFG3L2 | Bryony Thompson edited their review of gene: AFG3L2: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.3 | AFG3L2 | Bryony Thompson changed review comment from: Currently two clear-cut reports of PME associated with biallelic variants in this gene. Two Italian patients with the same homozygous variant (found to be related through identity by decent analysis), who presented with severe progressive myoclonus at age 10 years after normal early development. Progressive myoclonic epilepsy found to be a feature of the phenotype in a consanguineous family with a homozygous variant. Family with a homozygous SETX variant and a heterozygous AFG3L2 variant with ataxia with postural/intentional myoclonus and involuntary movements, where the myoclonus phenotype appears to be segregating with the AFG3L2 variant.; to: Currently two clear-cut reports of PME associated with biallelic variants in this gene. Two Italian patients with the same homozygous variant (found to be related through identity by decent analysis), who presented with severe progressive myoclonus at age 10 years after normal early development. Progressive myoclonic epilepsy found to be a feature of the phenotype in a consanguineous family with a homozygous variant. Family with a homozygous SETX variant and a heterozygous AFG3L2 variant with ataxia with postural/intentional myoclonus and involuntary movements, where the myoclonus phenotype appears to be segregating with the AFG3L2 variant. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.3 | AFG3L2 | Bryony Thompson Mode of inheritance for gene: AFG3L2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.2 | AFG3L2 | Bryony Thompson Classified gene: AFG3L2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.2 | AFG3L2 | Bryony Thompson Gene: afg3l2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.1 | AFG3L2 | Bryony Thompson reviewed gene: AFG3L2: Rating: AMBER; Mode of pathogenicity: None; Publications: 25401298, 22022284, 25927548; Phenotypes: Spastic ataxia 5, autosomal recessive MIM#614487, Spinocerebellar ataxia 28 MIM#610246; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.0 | AFG3L2 |
Bryony Thompson gene: AFG3L2 was added gene: AFG3L2 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: AFG3L2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AFG3L2 were set to Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome |
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