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  2. Haem degradation and bilirubin metabolism defects
  3. ALAD
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Haem degradation and bilirubin metabolism defects

Gene: ALAD

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

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 16343966, 30724374: total of 8 cases including parents who are unaffected carriers with half-normal ALAD activity.

PMID: 31311713, Genereviews: Biochemical findings are marked elevations in urinary ALA and coproporphyrin III and erythrocyte zinc protoporphyrin with normal PBG
Created: 25 Jun 2020, 12:27 a.m. | Last Modified: 25 Jun 2020, 12:27 a.m.
Panel Version: 0.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Porphyria, acute hepatic (MIM# 612740)

Publications

Created: 25 Jun 2020, 12:27 a.m.
Last Modified: 25 Jun 2020, 12:27 a.m.
Panel version: 0.1

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Porphyria, acute hepatic 612740
  • {Lead poisoning, susceptibility to} 612740
  • Acute hepatic porphyria (Acute neuropathic porphyrias)
OMIM
125270
Clinvar variants
Variants in ALAD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: alad has been classified as Green List (High Evidence).

25 Jun 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ALAD were set to

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ALAD was added gene: ALAD was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ALAD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALAD were set to Porphyria, acute hepatic 612740; {Lead poisoning, susceptibility to} 612740; Acute hepatic porphyria (Acute neuropathic porphyrias)