Likely inborn error of metabolism
Gene: ALAD

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

Created: 23 Feb 2017, 5:11 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.304

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

27604308

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