Genomics England

ALDH5A1

aldehyde dehydrogenase 5 family member A1

Panel	Mode of inheritance	Details
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Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 4.40	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Succinic semialdehyde dehydrogenase deficiency, MIM# 271980
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.79	BIALLELIC, autosomal or pseudoautosomal	Phenotypes SUCCINATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY 271980
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 4.134	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Succinic semialdehyde dehydrogenase deficiency OMIM:271980, succinic semialdehyde dehydrogenase deficiency MONDO:0010083
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.343	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Succinic semialdehyde dehydrogenase deficiency OMIM:271980, succinic semialdehyde dehydrogenase deficiency MONDO:0010083
Green in Likely inborn error of metabolism - targeted testing not possible Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 4.78	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Succinic semialdehyde dehydrogenase deficiency OMIM:271980, succinic semialdehyde dehydrogenase deficiency MONDO:0010083