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Severe Paediatric Disorders

Gene: UROC1

Amber List (moderate evidence)

UROC1 (urocanate hydratase 1)
EnsemblGeneIds (GRCh38): ENSG00000159650
EnsemblGeneIds (GRCh37): ENSG00000159650
OMIM: 613012, Gene2Phenotype
UROC1 is in 7 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: UROC1; Recommended initial gene rating: I don't know; Phenotypes: ?Cone-rod dystrophy (3) | ?Immunodeficiency 13, 615518 (3); Mode of inheritance: ND | Autosomal dominant
Created: 20 Feb 2020, 5:28 p.m. | Last Modified: 20 Feb 2020, 5:28 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Amber
  • Expert list
Phenotypes
  • ?Immunodeficiency 13, 615518
  • ?Cone-rod dystrophy
OMIM
613012
Clinvar variants
Variants in UROC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene UROC1 were updated from to 30847515

20 Feb 2020, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes ?Immunodeficiency 13, 615518; ?Cone-rod dystrophy for gene: UROC1

20 Feb 2020, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes ?Immunodeficiency 13, 615518; ?Cone-rod dystrophy for gene: UROC1

20 Feb 2020, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes ?Immunodeficiency 13, 615518; ?Cone-rod dystrophy for gene: UROC1

19 Feb 2020, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes ?Immunodeficiency 13, 615518; ?Cone-rod dystrophy for gene: UROC1

19 Feb 2020, Gel status: 2

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene UROC1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes ?Immunodeficiency 13, 615518; ?Cone-rod dystrophy for gene: UROC1

14 Feb 2020, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to UROC1.

14 Feb 2020, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to UROC1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: UROC1 was added gene: UROC1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: UROC1 was set to