Miscellaneous Metabolic Disorders
Gene: AASS
AASS (aminoadipate-semialdehyde synthase)
EnsemblGeneIds (GRCh38): ENSG00000008311
EnsemblGeneIds (GRCh37): ENSG00000008311
OMIM: 605113, Gene2Phenotype
AASS is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000008311
EnsemblGeneIds (GRCh37): ENSG00000008311
OMIM: 605113, Gene2Phenotype
AASS is in 5 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Hyperlysinemia type I is an autosomal recessive metabolic condition with variable clinical features. Some patients who present in infancy with nonspecific seizures, hypotonia, or mildly delayed psychomotor development have been found to have increased serum lysine and pipecolic acid on laboratory analysis. However, about 50% of probands are reported to be asymptomatic. Given the broad range of clinical features and the presence of consanguinity in several families, there was not strong evidence for causality of symptoms. It has been suggested that hyperlysinemia is a benign metabolic variant rather than a disease entity.Created: 29 Aug 2020, 7:49 a.m. | Last Modified: 29 Aug 2020, 7:50 a.m.
Panel Version: 0.4002
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperlysinemia, MIM# 238700
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- NHS GMS
- Victorian Clinical Genetics Services
- Phenotypes
-
- Hyperlysinemia, MIM# 238700
- Tags
- OMIM
- 605113
- Clinvar variants
- Variants in AASS
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
8 Feb 2021, Gel status: 2
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag disputed tag was added to gene: AASS.
22 Jan 2021, Gel status: 2
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: aass has been classified as Amber List (Moderate Evidence).
22 Jan 2021, Gel status: 2
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: aass has been classified as Amber List (Moderate Evidence).
22 Jan 2021, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: AASS was added gene: AASS was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: AASS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AASS were set to 23570448 Phenotypes for gene: AASS were set to Hyperlysinemia, MIM# 238700