Ataxia and cerebellar anomalies - narrow panelGene: UCHL1
Ataxia is part of the phenotype. Two unrelated families and a mouse model.
Created: 13 Sep 2020, 7:59 a.m. | Last Modified: 13 Sep 2020, 7:59 a.m.
Panel Version: 2.12
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Spastic paraplegia 79, autosomal recessive, MIM#615491
Variants in this GENE are reported as part of current diagnostic practice
Rebecca Foulger: Comment on list classification
gene: UCHL1 was added gene: UCHL1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: UCHL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UCHL1 were set to PMID: 23359680 Phenotypes for gene: UCHL1 were set to Early onset ataxia and optic neuropathy