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DDG2P

Gene: ALDOB

Green List (high evidence)

ALDOB (aldolase, fructose-bisphosphate B)
EnsemblGeneIds (GRCh38): ENSG00000136872
EnsemblGeneIds (GRCh37): ENSG00000136872
OMIM: 612724, Gene2Phenotype
ALDOB is in 11 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for HEREDITARY FRUCTOSE INTOLERANCE.
Created: 8 Oct 2019, 3:24 p.m. | Last Modified: 8 Oct 2019, 3:24 p.m.
Panel Version: 1.131
Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
Created: 12 Jul 2019, 9:15 p.m. | Last Modified: 12 Jul 2019, 9:15 p.m.
Panel Version: 1.76
Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for HEREDITARY FRUCTOSE INTOLERANCE.
Created: 29 Jan 2019, 12:14 p.m.
Original DDG2P rating: both DD and IF.
Created: 19 Nov 2018, 11:29 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • HEREDITARY FRUCTOSE INTOLERANCE 229600
OMIM
612724
Clinvar variants
Variants in ALDOB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Jul 2019, Gel status: 3

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Green was added to ALDOB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: both DD

29 Jan 2019, Gel status: 2

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Amber was added to ALDOB. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: ALDOB was added gene: ALDOB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ALDOB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDOB were set to 3383242 Phenotypes for gene: ALDOB were set to HEREDITARY FRUCTOSE INTOLERANCE 229600