Mitochondrial DNA maintenance disorder
Gene: AFG3L2
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: AFG3L2; Suggested intial gene rating: Green; Information provided: Mode of inheritance, phenotype and publication.Created: 1 Feb 2019, 4:28 p.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Progressive external ophthalmoplegia with mitochondrial DNA deletions
Publications
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of inheritance: On G2P, biallelic requirement for Ataxia, spastic, 5 autosomal recessive, and monoallelic for spinocerebellar ataxia 28.Created: 10 Feb 2016, 11:06 a.m.
Comment on list classification: Both reviewers agree this should be promoted from red to green. It is a "both developmental disorder and incidental (non-developmental) disorder" gene in G2P.Created: 10 Feb 2016, 11:05 a.m.
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
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