Optic Atrophy

Gene: UCHL1

Green List (high evidence)

PMID 35986737: 34 individuals from 18 unrelated families, carrying 13 heterozygous loss-of-function variants (15 families) and an inframe insertion (3 families). Affected individuals mainly presented with spasticity (24/31), ataxia (28/31), neuropathy (11/21), and optic atrophy (9/17).

Created: 1 Sep 2022, 6:40 a.m. | Last Modified: 1 Sep 2022, 6:40 a.m.

Panel Version: 1.7

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 79, autosomal recessive, MIM#615491; Neurodegenerative disease, MONDO:0005559, UCHL1-related

Publications

• 28007905
• 23359680
• 11555633
• 35986737

Green List (high evidence)

Reported in 3 independent families with multiple affected individuals - optic atrophy reported in all affected individuals

Bilguvar 2012: 3 siblings with early onset progressive neurodegenerative disorder including optic nerve atrophy. Functional studies performed
Rydning 2017: 3 siblings with childhood-onset optic atrophy, followed by spasticity and ataxia. Functional studies performed.
Bhowmik 2018: 2 siblings with SPG79

Created: 9 Apr 2020, 2:19 a.m. | Last Modified: 9 Apr 2020, 2:19 a.m.

Panel Version: 0.11

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 79, autosomal recessive (MIM#615491)

Publications

• PMID: 29735986
• PMID: 23359680
• PMID: 28007905