Genomics England

ALDH18A1

aldehyde dehydrogenase 18 family member A1

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in Adult onset hereditary spastic paraplegia R-numbers: R60 Signed-off version 5.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 9B, autosomal recessive 616586, SPG9, ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT, Cutis laxa, autosomal dominant 3 616603, Spastic paraplegia 9A, autosomal dominant 601162, Cutis laxa, autosomal recessive, type IIIA 219150
Green in Bilateral congenital or childhood onset cataracts R-numbers: R31 Signed-off version 5.4	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Cutis laxa, autosomal dominant 3 OMIM:616603, cutis laxa, autosomal dominant 3 MONDO:0014706, Cutis laxa, autosomal recessive, type IIIA OMIM:219150, ALDH18A1-related de Barsy syndrome MONDO:0009053, Spastic paraplegia 9A, autosomal dominant OMIM:601162, hereditary spastic paraplegia 9A MONDO:0011006, Spastic paraplegia 9B, autosomal recessive OMIM:616586, autosomal recessive complex spastic paraplegia type 9B MONDO:0014702
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 5.4	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Cutis laxa, autosomal dominant 3 OMIM:616603, cutis laxa, autosomal dominant 3 MONDO:0014706, Cutis laxa, autosomal recessive, type IIIA OMIM:219150, ALDH18A1-related de Barsy syndromeMONDO:0009053, Spastic paraplegia 9A, autosomal dominant OMIM:601162, hereditary spastic paraplegia 9A MONDO:0011006, Spastic paraplegia 9B, autosomal recessive OMIM:616586, autosomal recessive complex spastic paraplegia type 9B MONDO:0014702
Green in Childhood onset hereditary spastic paraplegia R-numbers: R61 Signed-off version 6.4	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 9B, autosomal recessive, 616586, SPG9, Spastic paraplegia 9A, autosomal dominant, 601162, ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT, Spastic paraplegia 9B, autosomal recessive CUTIS LAXA, AUTOSOMAL DOMINANT 3
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT 601162, CUTIS LAXA, AUTOSOMAL DOMINANT 3 616603, MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES 612652
Green in Ehlers Danlos syndrome with a likely monogenic cause R-numbers: R101 Signed-off version 3.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Cutis laxa, autosomal recessive, type IIIA, OMIM:219150, Cutis laxa, autosomal dominant 3, OMIM:616603
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes CUTIS LAXA, AUTOSOMAL DOMINANT 3, SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT, MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.51	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Cutis laxa, autosomal recessive, type IIIA, 219150, SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT, SPG9
Green in Likely inborn error of metabolism 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 6.14	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Cutis laxa, autosomal dominant 3 OMIM:616603, cutis laxa, autosomal dominant 3 MONDO:0014706, Cutis laxa, autosomal recessive, type IIIA OMIM:219150, ALDH18A1-related de Barsy syndrome MONDO:0009053, Spastic paraplegia 9A, autosomal dominant OMIM:601162, hereditary spastic paraplegia 9A MONDO:0011006, Spastic paraplegia 9B, autosomal recessive OMIM:616586, autosomal recessive complex spastic paraplegia type 9B MONDO:0014702