Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: UCHL1

Red List (low evidence)

UCHL1 (ubiquitin C-terminal hydrolase L1)
EnsemblGeneIds (GRCh38): ENSG00000154277
EnsemblGeneIds (GRCh37): ENSG00000154277
OMIM: 191342, Gene2Phenotype
UCHL1 is in 10 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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

Phenotypes
Spastic paraplegia 79, autosomal recessive, MIM#615491

Publications

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

History Filter Activity

9 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Comment on list classification

19 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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