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Fetal anomalies

Gene: ALAD

Red List (low evidence)

ALAD (aminolevulinate dehydratase)
EnsemblGeneIds (GRCh38): ENSG00000148218
EnsemblGeneIds (GRCh37): ENSG00000148218
OMIM: 125270, Gene2Phenotype
ALAD is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Post-natal onset.
Created: 23 Dec 2021, 9:21 a.m. | Last Modified: 23 Dec 2021, 9:21 a.m.
Panel Version: 0.1610

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Porphyria, acute hepatic , MIM#612740

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Porphyria, acute hepatic , MIM#612740
OMIM
125270
Clinvar variants
Variants in ALAD
Penetrance
None
Panels with this gene

History Filter Activity

23 Dec 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: alad has been classified as Red List (Low Evidence).

23 Dec 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ALAD were changed from ACUTE HEPATIC PORPHYRIA to Porphyria, acute hepatic , MIM#612740

24 Oct 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ALAD was added gene: ALAD was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: ALAD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALAD were set to ACUTE HEPATIC PORPHYRIA