Mitochondrial disorders
Gene: AFG3L2Comment on phenotypes: Disorders of mitochondrial DNA maintenance and integrityCreated: 18 May 2021, 4:52 p.m. | Last Modified: 18 May 2021, 4:52 p.m.
Panel Version: 2.36
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 Spastic ataxia 5, autosomal recessive OMIM:614487; spastic ataxia 5 MONDO:0013776; Spinocerebellar ataxia 28 OMIM:610246; spinocerebellar ataxia type 28 MONDO:0012450 to Optic atrophy 12, OMIM:618977; Spinocerebellar ataxia 28, OMIM:610246; Spastic ataxia 5, autosomal recessive, OMIM:614487
Phenotypes for gene: AFG3L2 were changed from Disorders of mitochondrial DNA maintenance and integrity; Spinocerebellar ataxia 28, 610246; Ataxia, spastic, 5, autosomal recessive, 614487 to Spastic ataxia 5, autosomal recessive OMIM:614487; spastic ataxia 5 MONDO:0013776; Spinocerebellar ataxia 28 OMIM:610246; spinocerebellar ataxia type 28 MONDO:0012450
Victorian Clinical Genetics Services was added to AFG3L2. Panel: Mitochondrial disorders
This gene has been classified as Green List (High Evidence).
Phenotypes for AFG3L2 were set to Disorders of mitochondrial DNA maintenance and integrity; Spinocerebellar ataxia 28, 610246; Ataxia, spastic, 5, autosomal recessive, 614487
Mode of inheritance for AFG3L2 was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
AFG3L2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
AFG3L2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
AFG3L2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen