1. Panels
  2. BRIDGE_SPEED_NEURO_v2.0_20160416
  3. UROC1
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BRIDGE_SPEED_NEURO_v2.0_20160416

Gene: UROC1

Red List (low evidence)
UROC1 (urocanate hydratase 1)
EnsemblGeneIds (GRCh38): ENSG00000159650
EnsemblGeneIds (GRCh37): ENSG00000159650
OMIM: 613012, Gene2Phenotype
UROC1 is in 6 panels

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; GEL_ID_green_20160217; neuro_20160418_strict; Uncertain
Created: 7 Feb 2017, 5:03 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Urocanase deficiency, 276880

Variants in this GENE are reported as part of current diagnostic practice

Created: 7 Feb 2017, 5:03 p.m.

Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE
Phenotypes
  • Urocanase deficiency, 276880
OMIM
613012
Clinvar variants
Variants in UROC1
Penetrance
Complete
Panels with this gene

History Filter Activity

7 Feb 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

UROC1 was created by ellenmcdonagh

7 Feb 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

UROC1 was added to BRIDGE_SPEED_NEURO_v2.0_20160416panel. Sources: BRIDGE