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Intellectual disability syndromic and non-syndromic

Gene: UROC1

Red List (low evidence)

UROC1 (urocanate hydratase 1)
EnsemblGeneIds (GRCh38): ENSG00000159650
EnsemblGeneIds (GRCh37): ENSG00000159650
OMIM: 613012, Gene2Phenotype
UROC1 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Three individuals from two families, one presenting with ID/ataxia, and the sibs from the second family following a normal clinical course despite distinctive biochemical abnormalities.
Created: 29 Jan 2021, 11:33 p.m. | Last Modified: 29 Jan 2021, 11:33 p.m.
Panel Version: 0.3406

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Urocanase deficiency, MIM#276880

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Urocanase deficiency, MIM#276880
OMIM
613012
Clinvar variants
Variants in UROC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: uroc1 has been classified as Red List (Low Evidence).

29 Jan 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: UROC1 were changed from to Urocanase deficiency, MIM#276880

29 Jan 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: UROC1 were set to

29 Jan 2021, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: UROC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

29 Jan 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: uroc1 has been classified as Red List (Low Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: UROC1 was added gene: UROC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: UROC1 was set to Unknown