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  3. OAT
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Cataract

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)

Green List (high evidence)

Onset of cataract in the second/third decade is a common feature of this condition.
Sources: Expert list
Created: 15 Apr 2020, 3:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Gyrate atrophy of choroid and retina with or without ornithinemia MIM#258870

Publications

Created: 15 Apr 2020, 3:01 a.m.

Panel version: 0.118

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Gyrate atrophy of choroid and retina with or without ornithinemia MIM#258870
OMIM
613349
Clinvar variants
Variants in OAT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Apr 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).

15 Apr 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).

15 Apr 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: OAT was added gene: OAT was added to Cataract. Sources: Expert list Mode of inheritance for gene: OAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OAT were set to 22674428; 11297489 Phenotypes for gene: OAT were set to Gyrate atrophy of choroid and retina with or without ornithinemia MIM#258870 Review for gene: OAT was set to GREEN