ALDH5A1

aldehyde dehydrogenase 5 family member A1
OMIM: 610045, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green ALDH5A1 in Neurotransmitter disorders Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.11	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Succinic semialdehyde dehydrogenase deficiency OMIM:271980 succinic semialdehyde dehydrogenase deficiency MONDO:0010083
Green ALDH5A1 in Ataxia and cerebellar anomalies - narrow panel Level 2: Neurology Version 8.85 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Succinic semialdehyde dehydrogenase deficiency, MIM# 271980
Green ALDH5A1 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.645	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Literature Phenotypes Succinic semialdehyde dehydrogenase deficiency 271980
Green ALDH5A1 in Likely inborn error of metabolism Level 2: Metabolic Version 8.113 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 Succinic semialdehyde dehydrogenase deficiency OMIM:271980 succinic semialdehyde dehydrogenase deficiency MONDO:0010083
Red ALDH5A1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.196 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes SUCCINATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
Green ALDH5A1 in DDG2P Version 6.447 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SUCCINATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY 271980
Green ALDH5A1 in Early onset or syndromic epilepsy Level 2: Neurology Version 8.195 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Succinic semialdehyde dehydrogenase deficiency OMIM:271980 succinic semialdehyde dehydrogenase deficiency MONDO:0010083
Green ALDH5A1 in Intellectual disability Level 2: Developmental disorders Version 9.400 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 Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Succinic semialdehyde dehydrogenase deficiency OMIM:271980 succinic semialdehyde dehydrogenase deficiency MONDO:0010083
Red ALDH5A1 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.25 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH