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Intellectual disability syndromic and non-syndromic

Gene: UCHL1

Red List (low evidence)

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

1 review

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

No ID phenotype in this neurological disorder.
Created: 4 Dec 2019, 11:33 p.m. | Last Modified: 4 Dec 2019, 11:33 p.m.
Panel Version: 0.388

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 79, autosomal recessive; OMIM #615491

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Spastic paraplegia 79, autosomal recessive
  • OMIM #615491
OMIM
191342
Clinvar variants
Variants in UCHL1
Penetrance
None
Panels with this gene

History Filter Activity

11 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

4 Dec 2019, Gel status: 3

Removed Source, Added New Source, Set mode of inheritance, Set Phenotypes

Chirag Patel (Genetic Health Queensland)

Source Genetic Health Queensland was removed from UCHL1. Source Expert list was added to UCHL1. Mode of inheritance for gene UCHL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UCHL1 were changed from to Spastic paraplegia 79, autosomal recessive; OMIM #615491

22 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 Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: UCHL1 was set to Unknown