Genes in panel
STRs in panel
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Inborn errors of metabolism

Gene: CAT

Green List (high evidence)

CAT (catalase)
EnsemblGeneIds (GRCh38): ENSG00000121691
EnsemblGeneIds (GRCh37): ENSG00000121691
OMIM: 115500, Gene2Phenotype
CAT is in 4 panels

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Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Acatalasaemia (Other peroxisomal disorders)
  • Acatalasemia, 614097
OMIM
115500
Clinvar variants
Variants in CAT
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 CAT. Source London North GLH was added to CAT.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: CAT was added gene: CAT was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CAT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CAT were set to 27604308 Phenotypes for gene: CAT were set to Acatalasaemia (Other peroxisomal disorders); Acatalasemia, 614097