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  3. AASS
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Early onset or syndromic epilepsy

Gene: AASS

Green List (high evidence)
AASS (aminoadipate-semialdehyde synthase)
EnsemblGeneIds (GRCh38): ENSG00000008311
EnsemblGeneIds (GRCh37): ENSG00000008311
OMIM: 605113, Gene2Phenotype
AASS is in 7 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 24 Feb 2025, 5:59 p.m. | Last Modified: 24 Feb 2025, 5:59 p.m.
Panel Version: 7.39

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 24 Feb 2025, 5:59 p.m.
Last Modified: 24 Feb 2025, 5:59 p.m.
Panel version: 7.39

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

AASS associated with hyperlysinemia in ClinGen (definitive), G2P (strong) and OMIM. At least 10 probands in 4 publications (PMIDs: 23890588, 10775527, 27604308, 23570448), of which at least 4 cases had epilepsy. Seizures can represent an early feature of the disorder which supports inclusion of AASS on this panel.

This gene-disease relationship is supported by its biochemical function in lysine catabolism and a knock-in mouse model which recapitulates the human phenotype of hyperlysinemia (PMID: 35135854).
Sources: Literature
Created: 14 Nov 2024, 10:42 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperlysinemia, OMIM:238700; Hyperlysinemia (disease), MONDO:0009388

Publications

Created: 14 Nov 2024, 10:42 a.m.

Panel version: 7.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Hyperlysinemia, OMIM:238700
  • Hyperlysinemia (disease), MONDO:0009388
OMIM
605113
Clinvar variants
Variants in AASS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Feb 2025, Gel status: 3

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_24_promote_green was removed from gene: AASS.

24 Feb 2025, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source NHS GMS was added to AASS. Source Expert Review Green was added to AASS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

14 Nov 2024, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: aass has been classified as Amber List (Moderate Evidence).

14 Nov 2024, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

gene: AASS was added gene: AASS was added to Early onset or syndromic epilepsy. Sources: Literature Q3_24_promote_green tags were added to gene: AASS. Mode of inheritance for gene: AASS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AASS were set to 23890588; 10775527; 27604308; 23570448 Phenotypes for gene: AASS were set to Hyperlysinemia, OMIM:238700; Hyperlysinemia (disease), MONDO:0009388 Review for gene: AASS was set to GREEN