Genomics England
GMS Panels
Panels
Genes and Entities

AASS

aminoadipate-semialdehyde synthase
OMIM: 605113
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperlysinemia, OMIM:238700, Hyperlysinemia (disease), MONDO:0009388
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
Signed-off version 9.56
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperlysinemia, OMIM:238700, Hyperlysinemia (disease), MONDO:0009388
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperlysinemia, OMIM:238700, Hyperlysinemia (disease), MONDO:0009388
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 9.29
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperlysinemia, OMIM:238700, Hyperlysinemia (disease), MONDO:0009388