Genomics England
GMS Panels
Panels
Genes and Entities

ALDH6A1

aldehyde dehydrogenase 6 family member A1
OMIM: 603178
PanelMode of inheritanceDetails
1 panel
Green
in Likely inborn error of metabolism - targeted testing not possible
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 4.78
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Methylmalonate semialdehyde dehydrogenase deficiency 614105, 3-Hydroxyisobutyric aciduria (Organic acidurias), Methylmalonate semialdehyde dehydrogenase deficiency (Organic acidurias)