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Inborn errors of metabolism

Gene: OAT

Green List (high evidence)

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

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Ornithine aminotransferase deficiency (Disorders of ornithine or proline metabolism)
  • Gyrate atrophy of choroid and retina with or without ornithinemia
OMIM
613349
Clinvar variants
Variants in OAT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to OAT. Source London North GLH was added to OAT.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: OAT was added gene: OAT was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: OAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OAT were set to 27604308 Phenotypes for gene: OAT were set to Ornithine aminotransferase deficiency (Disorders of ornithine or proline metabolism); Gyrate atrophy of choroid and retina with or without ornithinemia