Aminoacidopathy
Gene: HOGA1EnsemblGeneIds (GRCh38): ENSG00000241935
EnsemblGeneIds (GRCh37): ENSG00000241935
OMIM: 613597, Gene2Phenotype
HOGA1 is in 5 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Established gene-disease association with >4 unrelated individuals having evidence of abnormal biochemical function.
Sources: OtherCreated: 18 Jul 2024, 2:50 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
primary hyperoxaluria type 3 MONDO:0013327; Disorders of ornithine, proline and hydroxyproline metabolism
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- primary hyperoxaluria type 3 MONDO:0013327
- Disorders of ornithine, proline and hydroxyproline metabolism
- OMIM
- 613597
- Clinvar variants
- Variants in HOGA1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hoga1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hoga1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: HOGA1 was added gene: HOGA1 was added to Aminoacidopathy. Sources: Other Mode of inheritance for gene: HOGA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HOGA1 were set to 26401545; 21896830; 20797690 Phenotypes for gene: HOGA1 were set to primary hyperoxaluria type 3 MONDO:0013327; Disorders of ornithine, proline and hydroxyproline metabolism Review for gene: HOGA1 was set to GREEN