Genes in panel

Likely inborn error of metabolism - targeted testing not possible

Gene: ALDH1B1

Red List (low evidence)

ALDH1B1 (aldehyde dehydrogenase 1 family member B1)
EnsemblGeneIds (GRCh38): ENSG00000137124
EnsemblGeneIds (GRCh37): ENSG00000137124
OMIM: 100670, Gene2Phenotype
ALDH1B1 is in 2 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: Should remain red.
Created: 10 Feb 2016, 11:29 a.m.

Shamima Rahman (UCL Institute of Child Health)

I don't know


Mode of Inheritance
  • Expert Review Red
  • No OMIM phenotype
  • Succinic semialdehyde dehydrogenase deficiency
Clinvar variants
Variants in ALDH1B1
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: ALDH1B1 was added gene: ALDH1B1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: ALDH1B1 was set to Unknown Phenotypes for gene: ALDH1B1 were set to No OMIM phenotype; Succinic semialdehyde dehydrogenase deficiency