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Newborns main panel

Gene: ALDOB

Green List (high evidence)

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:39 p.m. | Last Modified: 1 Jun 2023, 2:39 p.m.
Panel Version: 0.137
https://pubmed.ncbi.nlm.nih.gov/34524712/
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hereditary fructose intolerance for gene: ALDOB

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hereditary fructose intolerance for gene: ALDOB

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hereditary fructose intolerance for gene: ALDOB

5 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hereditary fructose intolerance for gene: ALDOB

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hereditary fructose intolerance for gene: ALDOB

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: ALDOB was added gene: ALDOB was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: ALDOB was set to BIALLELIC, autosomal or pseudoautosomal