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Neurodegeneration with brain iron accumulation v0.19 AFG3L2 Zornitza Stark Marked gene: AFG3L2 as ready
Neurodegeneration with brain iron accumulation v0.19 AFG3L2 Zornitza Stark Gene: afg3l2 has been classified as Red List (Low Evidence).
Neurodegeneration with brain iron accumulation v0.19 AFG3L2 Zornitza Stark Phenotypes for gene: AFG3L2 were changed from ataxia; visual impairment; neuroregression to Spastic ataxia 5, autosomal recessive, MIM# 614487; Spinocerebellar ataxia 28, MIM# 610246
Neurodegeneration with brain iron accumulation v0.18 AFG3L2 Zornitza Stark Classified gene: AFG3L2 as Red List (low evidence)
Neurodegeneration with brain iron accumulation v0.18 AFG3L2 Zornitza Stark Gene: afg3l2 has been classified as Red List (Low Evidence).
Neurodegeneration with brain iron accumulation v0.17 AFG3L2 Zornitza Stark reviewed gene: AFG3L2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic ataxia 5, autosomal recessive, MIM# 614487, Spinocerebellar ataxia 28, MIM# 610246; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurodegeneration with brain iron accumulation v0.15 AFG3L2 Shekeeb Mohammad gene: AFG3L2 was added
gene: AFG3L2 was added to Neuroferritinopathies. Sources: Literature
Mode of inheritance for gene: AFG3L2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: AFG3L2 were set to 32237276
Phenotypes for gene: AFG3L2 were set to ataxia; visual impairment; neuroregression
Review for gene: AFG3L2 was set to GREEN
gene: AFG3L2 was marked as current diagnostic
Added comment: Sources: Literature