Likely inborn error of metabolism - targeted testing not possible
Gene: AASS
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: 8 Feb 2021, 6:45 a.m. | Last Modified: 8 Feb 2021, 6:45 a.m.
Panel Version: 2.51
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperlysinemia, MIM# 238700
Publications
Comment when marking as ready: Associated with phenotype in OMIM and as a probable Developmental Disorder Gene / G2P. At least 8 variants reported .Created: 12 Jan 2017, 12:10 p.m.
Comment on phenotypes: Also associated with Saccharopinuria 268700Created: 12 Jan 2017, 12:09 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)Created: 6 Jan 2017, 1:54 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual disability
Phenotypes for gene: AASS were changed from Intellectual disability; Hyperlysinemia; Hyperlysinaemia (Disorders of histidine, tryptophan or lysine metabolism) to Hyperlysinemia, OMIM:238700; Hyperlysinemia (disease), MONDO:0009388
Source NHS GMS was added to AASS. Source London North GLH was added to AASS.
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
gene: AASS was added gene: AASS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: AASS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AASS were set to 27604308 Phenotypes for gene: AASS were set to Intellectual disability; Hyperlysinemia; Hyperlysinaemia (Disorders of histidine, tryptophan or lysine metabolism)