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| Mitochondrial DNA maintenance disorder v3.7 | SPG7 | Ida Ertmanska commented on gene: SPG7: Comment on list classification: An overwhelming majority of cases with SPG7-related spastic paraplegia / spinocerebellar ataxia / optic atrophy have biallelic SPG7 variants. While several monoallelic cases have been described to date, the evidence for dominant inheritance is controversial (e.g., deep intronic SPG7 variant detectable only by WGS - PMID: 31854126; possible digenic inheritance with variants in other spasticity-related genes / SPG7-interacting genes - emerging evidence for AFG3L2 in particular - PMID: 23065789, 33598982, 33774748). Heterozygous carriers of SPG7 variants in recessive pedigrees are usually unaffected. Based on available evidence, the mode of inheritance for SPG7 should be changed to BIALLELIC, autosomal or pseudoautosomal. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial DNA maintenance disorder v1.9 | AFG3L2 | Arina Puzriakova Phenotypes for gene: AFG3L2 were changed from Progressive external ophthalmoplegia with mitochondrial DNA deletions to Optic atrophy 12, OMIM:618977; Spinocerebellar ataxia 28, OMIM:610246; Spastic ataxia 5, autosomal recessive, OMIM:614487 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial DNA maintenance disorder v0.3 | AFG3L2 | Ivone Leong reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25420100; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial DNA maintenance disorder v0.2 | AFG3L2 |
Ivone Leong gene: AFG3L2 was added gene: AFG3L2 was added to Mitochondrial DNA maintenance disorder. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: AFG3L2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: AFG3L2 were set to 25420100 Phenotypes for gene: AFG3L2 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions |
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