Hereditary Neuropathy - complex

Gene: UCHL1

Green List (high evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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).
Sources: Literature
Created: 1 Sep 2022, 6:45 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodegenerative disease, MONDO:0005559, UCHL1-related

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodegenerative disease, MONDO:0005559, UCHL1-related
OMIM
191342
Clinvar variants
Variants in UCHL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: uchl1 has been classified as Green List (High Evidence).

1 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: uchl1 has been classified as Green List (High Evidence).

1 Sep 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: UCHL1 was added gene: UCHL1 was added to Hereditary Neuropathy - complex. Sources: Literature Mode of inheritance for gene: UCHL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: UCHL1 were set to 35986737 Phenotypes for gene: UCHL1 were set to Neurodegenerative disease, MONDO:0005559, UCHL1-related Review for gene: UCHL1 was set to GREEN