Neonatal cholestasis
Gene: ALDOB

ALDOB (aldolase, fructose-bisphosphate B)
EnsemblGeneIds (GRCh38): ENSG00000136872
EnsemblGeneIds (GRCh37): ENSG00000136872
OMIM: 612724, Gene2Phenotype
ALDOB is in 10 panels

3 reviews

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: Added phenotypes suggested from external expert review.
Created: 25 Jul 2018, 2:25 p.m.

Created: 25 Jul 2018, 2:25 p.m.

Panel version: 0.157

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from amber to green due to expert review. More than 3 unrelated families reported to date. Green gene on several panels including undiagnosed metabolic disorders Version 1.75. This gene is also on the Victorian Clinical Genetics Services gene panel.
Created: 21 Jun 2018, 2:34 p.m.

Created: 21 Jun 2018, 2:34 p.m.

Panel version: 0.22

Jane Hartley (Birmingham Women and Children's Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
fructose deficiency; acute liver failure

Variants in this GENE are reported as part of current diagnostic practice

Created: 16 Jun 2018, 8:48 p.m.

Panel version: 0.18

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
UKGTN
Emory Genetics Laboratory

Phenotypes

Neonatal and Adult Cholestasis
Fructose intolerance, hereditary
acute liver failure

OMIM

612724

Clinvar variants

Variants in ALDOB

Penetrance

None

Panels with this gene

History Filter Activity

3 Sep 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been subjected to extensive internal and external review.

25 Jul 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: ALDOB were set to Neonatal and Adult Cholestasis; Fructose intolerance, hereditary; acute liver failure

21 Jun 2018, Gel status: 3