Early-onset Dementia
Gene: UCHL1

UCHL1 (ubiquitin C-terminal hydrolase L1)
EnsemblGeneIds (GRCh38): ENSG00000154277
EnsemblGeneIds (GRCh37): ENSG00000154277
OMIM: 191342, Gene2Phenotype
UCHL1 is in 9 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Dementia and cognitive decline are not a prominent feature of the condition caused by this gene. Uchl1-/- mouse model has a pure motor neuropathy phenotype.
Created: 6 Feb 2020, 7:04 a.m. | Last Modified: 6 Feb 2020, 7:04 a.m.

Panel Version: 0.13

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 79, autosomal recessive MIM#615491

Publications

Created: 6 Feb 2020, 7:04 a.m.
Last Modified: 6 Feb 2020, 7:04 a.m.
Panel version: 0.13

Details

Mode of Inheritance

Unknown

Sources

Expert Review Red
Melbourne Genomics Health Alliance Complex Neurology Flagship
Victorian Clinical Genetics Services

OMIM

191342

Clinvar variants

Variants in UCHL1

Penetrance

None

Panels with this gene

History Filter Activity

6 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: uchl1 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: UCHL1 was added gene: UCHL1 was added to Early-onset Dementia_MGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: UCHL1 was set to Unknown

Early-onset Dementia Gene: UCHL1