Aminoacidopathy
Gene: KMO
KMO (kynurenine 3-monooxygenase)
EnsemblGeneIds (GRCh38): ENSG00000117009
EnsemblGeneIds (GRCh37): ENSG00000117009
OMIM: 603538, Gene2Phenotype
KMO is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000117009
EnsemblGeneIds (GRCh37): ENSG00000117009
OMIM: 603538, Gene2Phenotype
KMO is in 2 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Classified as no known disease relationship by ClinGen Aminoacidopathy GCEP on 12/05/2023 - https://search.clinicalgenome.org/CCID:005248
Only two knock out mouse models have ben reported that exhibited behavioural changes including memory impairment and anxiety like behaviour. Not reported as disease causing in any affected individuals at this stage and no evidence of any inborn errors of amino acid metabolism.
Sources: ClinGenCreated: 8 Jun 2024, 9:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
pellagra MONDO:0019975
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- pellagra MONDO:0019975
- OMIM
- 603538
- Clinvar variants
- Variants in KMO
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
13 Jun 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kmo has been classified as Red List (Low Evidence).
13 Jun 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kmo has been classified as Red List (Low Evidence).
8 Jun 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: KMO was added gene: KMO was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: KMO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KMO were set to 28187857, 24189070 Phenotypes for gene: KMO were set to pellagra MONDO:0019975 Review for gene: KMO was set to RED