Aminoacidopathy
Gene: AASSEnsemblGeneIds (GRCh38): ENSG00000008311
EnsemblGeneIds (GRCh37): ENSG00000008311
OMIM: 605113, Gene2Phenotype
AASS is in 5 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Reported in individuals with affected biochemical function. Knock-in mouse model was also conducted to recapitulate the human phenotype (PMID: 35135854).
Definitive classification by ClinGen Aminoacidopathy GCEP on 14/10/2022 - https://search.clinicalgenome.org/CCID:004004
Sources: ClinGenCreated: 20 May 2024, 6:03 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
hyperlysinemia MONDO:0009388
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- hyperlysinemia MONDO:0009388
- OMIM
- 605113
- Clinvar variants
- Variants in AASS
- 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: aass has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: AASS were set to 23890588, 10775527, 27604308, 23570448; 35135854
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: aass 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: AASS was added gene: AASS was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: AASS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AASS were set to 23890588, 10775527, 27604308, 23570448; 35135854 Phenotypes for gene: AASS were set to hyperlysinemia MONDO:0009388 Review for gene: AASS was set to GREEN