Genomics England

ALDH5A1

aldehyde dehydrogenase 5 family member A1

Panel	Mode of inheritance	Details
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Green in Ataxia and cerebellar anomalies - childhood onset Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies, childhood onset Signed-off version 9.22	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 8.0	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 Signed-off version 9.56	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: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 11.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Succinic semialdehyde dehydrogenase deficiency OMIM:271980, succinic semialdehyde dehydrogenase deficiency MONDO:0010083
Green in Likely inborn error of metabolism Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 9.29	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Succinic semialdehyde dehydrogenase deficiency OMIM:271980, succinic semialdehyde dehydrogenase deficiency MONDO:0010083