ALAD

aminolevulinate dehydratase
OMIM: 125270, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green ALAD in Non-acute porphyrias Level 2: Gastrohepatology Version 1.35 Latest signed off version: v1.4 (15 Oct 2020)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other NHS GMS Phenotypes Porphyria, acute hepatic OMIM:612740 porphyria due to ALA dehydratase deficiency MONDO:0013000
Green ALAD in Cutaneous photosensitivity with a likely genetic cause Level 2: Dermatology Version 3.16 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes {Lead poisoning, susceptibility to} 612740 Porphyria, acute hepatic 612740 Acute hepatic porphyria (Acute neuropathic porphyrias)
Green ALAD in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.642	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Acute hepatic porphyria (Acute neuropathic porphyrias) Porphyria, acute hepatic 612740 {Lead poisoning, susceptibility to} 612740
Green ALAD in Likely inborn error of metabolism Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	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
Red ALAD in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes ACUTE HEPATIC PORPHYRIA
Red ALAD in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red DD-Gene2Phenotype Phenotypes ACUTE HEPATIC PORPHYRIA 612740
Amber ALAD in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Porphyria, acute hepatic, 612740 {Lead poisoning, susceptibility to}, 612740
Red ALAD in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH