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Inborn errors of metabolism

Gene: ALAD

Green List (high evidence)

ALAD (aminolevulinate dehydratase)
EnsemblGeneIds (GRCh38): ENSG00000148218
EnsemblGeneIds (GRCh37): ENSG00000148218
OMIM: 125270, Gene2Phenotype
ALAD is in 8 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 6 variants reported in at least 3 cases.
Created: 23 Feb 2017, 5:11 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Porphyria, acute hepatic 612740; {Lead poisoning, susceptibility to} 612740

Publications

Details

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

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ALAD. Source London North GLH was added to ALAD.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: ALAD was added gene: ALAD was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ALAD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALAD were set to 27604308 Phenotypes for gene: ALAD were set to {Lead poisoning, susceptibility to} 612740; Acute hepatic porphyria (Acute neuropathic porphyrias); Porphyria, acute hepatic 612740