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DDG2P

Gene: ALAD

Red List (low evidence)

ALAD (aminolevulinate dehydratase)
EnsemblGeneIds (GRCh38): ENSG00000148218
EnsemblGeneIds (GRCh37): ENSG00000148218
OMIM: 125270, Gene2Phenotype
ALAD is in 9 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category for the disease ACUTE HEPATIC PORPHYRIA, OMIM:612740 is limited. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: 2063868).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ACUTE HEPATIC PORPHYRIA, OMIM:612740

Publications

Mode of pathogenicity
Other

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 ACUTE HEPATIC PORPHYRIA.
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 ACUTE HEPATIC PORPHYRIA.
Created: 29 Jan 2019, 12:14 p.m.
Original DDG2P rating: both DD and IF. DDG2P mode of pathogenicity: all missense/in frame
Created: 19 Nov 2018, 11:29 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • DD-Gene2Phenotype
Phenotypes
  • ACUTE HEPATIC PORPHYRIA 612740
OMIM
125270
Clinvar variants
Variants in ALAD
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

4 Oct 2023, Gel status: 1

Added New Source, Set mode of pathogenicity, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Red was added to ALAD. Mode of pathogenicity for gene ALAD was changed from Other - please provide details in the comments to Other Rating Changed from Green List (high evidence) to Red List (low evidence)

12 Jul 2019, Gel status: 3

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Green was added to ALAD. 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 ALAD. 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, Set mode of pathogenicity

Rebecca Foulger (Genomics England curator)

gene: ALAD was added gene: ALAD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ALAD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALAD were set to 2063868 Phenotypes for gene: ALAD were set to ACUTE HEPATIC PORPHYRIA 612740 Mode of pathogenicity for gene: ALAD was set to Other - please provide details in the comments