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  2. Retinitis pigmentosa_Autosomal Recessive/X-linked
  3. OAT
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Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: OAT

Green List (high evidence)
OAT (ornithine aminotransferase)
EnsemblGeneIds (GRCh38): ENSG00000065154
EnsemblGeneIds (GRCh37): ENSG00000065154
OMIM: 613349, Gene2Phenotype
OAT is in 9 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: Can have features of RP
Created: 9 Jan 2020, 11:12 p.m. | Last Modified: 9 Jan 2020, 11:12 p.m.
Panel Version: 0.1
Created: 9 Jan 2020, 11:12 p.m.
Last Modified: 9 Jan 2020, 11:12 p.m.
Panel version: 0.1

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Gyrate atrophy of choroid and retina
OMIM
613349
Clinvar variants
Variants in OAT
Penetrance
None
Panels with this gene

History Filter Activity

9 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

9 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

23 Dec 2019, Gel status: 2

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

Bryony Thompson (Royal Melbourne Hospital)

gene: OAT was added gene: OAT was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital Mode of inheritance for gene: OAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OAT were set to Gyrate atrophy of choroid and retina