Hereditary ataxia with onset in adulthood
Gene: AFG3L2
On Sheffield and Oxford panel. Lots of families on OMIM.Created: 27 Apr 2019, 7:39 p.m.
Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Loss of function variants only definitevely seen in SPAX5, evidence for haploinsufficiency in SCA28 is more lacking (we report heterozygous loss of function variants as VUSs)Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia 28, 610246 and spastic ataxia 5, 614487
Variants in this GENE are reported as part of current diagnostic practice
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 Spinocerebellar ataxia 28, OMIM:610246; Spastic ataxia 5, autosomal recessive, OMIM:614487
Phenotypes for gene: AFG3L2 were changed from Spinocerebellar ataxia 28, 610246; Ataxia, spastic, 5, autosomal recessive; spastic ataxia 5, 614487; Spinocerebellar ataxia 28; Spinocerebellar Ataxia, Dominant to Spastic ataxia 5, autosomal recessive OMIM:614487; spastic ataxia 5 MONDO:0013776; Spinocerebellar ataxia 28 OMIM:610246; spinocerebellar ataxia type 28 MONDO:0012450
Source London North GMS was added to AFG3L2.
Added phenotypes spastic ataxia 5, 614487; Spinocerebellar ataxia 28, 610246 for gene: AFG3L2
Source NHS GMS was added to AFG3L2.
Source Wessex and West Midlands GLH was added to AFG3L2.
Checked panel against panel constituents. Ready to promote to version 1.
gene: AFG3L2 was added gene: AFG3L2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: AFG3L2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: AFG3L2 were set to Ataxia, spastic, 5, autosomal recessive; Spinocerebellar Ataxia, Dominant; Spinocerebellar ataxia 28 Mode of pathogenicity for gene: AFG3L2 was set to Other - please provide details in the comments