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