Dystonia - complex

Gene: AFG3L2

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
dystonia; parkinsonism; intellectual disability; optic hypoplasia; dementia; cognitive decline

Publications

• 36110148

Variants in this GENE are reported as part of current diagnostic practice

Red List (low evidence)

Caporali, et al. (2020, PMID: 32219868) analyzed 286 optic atrophy patients. The AFG3L2 c.1901_1902delCT (p.Ser634*) variant has been found in trans with c.916A>G (p.Lys306Glu) variant in one male patient (18 years of age) with dystonia and additional clinical features.

The heterozygous AFG3L2 c.1064C>T (p.Thr355Met) variant has been found in one female patient (19 years of age) who had dystonia and additional clinical features.

Created: 24 Jan 2022, 2:53 a.m. | Last Modified: 24 Jan 2022, 2:53 a.m.

Panel Version: 0.201

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Early-onset dystonia

Publications

• 32219868

Red List (low evidence)

Dystonia is not a prominent feature of this condition. There is a single family reported with complex dystonia. Dystonia was previously observed in a family whose affected members carried an 18p chromosomal deletion that included AFG3L2.
Sources: Expert list

Created: 5 Apr 2020, 4:47 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic ataxia 5, autosomal recessive MIM#614487

Publications

• 22964162
• 16541453