Aminoacidopathy

Gene: AASS

Green List (high evidence)

AASS (aminoadipate-semialdehyde synthase)
EnsemblGeneIds (GRCh38): ENSG00000008311
EnsemblGeneIds (GRCh37): ENSG00000008311
OMIM: 605113, Gene2Phenotype
AASS is in 5 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

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: ClinGen
Created: 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

20 May 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: aass has been classified as Green List (High Evidence).

20 May 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AASS were set to 23890588, 10775527, 27604308, 23570448; 35135854

20 May 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: aass has been classified as Green List (High Evidence).

20 May 2024, Gel status: 0

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