Peroxisomal disorders

Gene: CAT

Green List (high evidence)

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

1 review

Sarah Leigh (Genomics England Curator)

Associated with phenotype in OMIM, not in G2P. Numerous variants reported
Created: 23 Aug 2016, 7:36 a.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Acatalasemia, 614097
OMIM
115500
Clinvar variants
Variants in CAT
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Oct 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 3rd October 2016

23 Aug 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for CAT was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

23 Aug 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for CAT were set to 24025477; 25772105

23 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

23 Aug 2016, Gel status: 2

Upload gene information

Sarah Leigh (Genomics England Curator)

CAT was added to Peroxisomal disorderspanel. Sources: Emory Genetics Laboratory,UKGTN

23 Aug 2016, Gel status: 1

clearsources

Sarah Leigh (Genomics England Curator)

CATAll sources for gene: CAT were removed

19 Aug 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

CAT was created by sleigh

19 Aug 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

CAT was added to Peroxisomal disorderspanel. Sources: Radboud University Medical Center, Nijmegen