Genomics England

ALDH3A2

aldehyde dehydrogenase 3 family member A2

Panel	Mode of inheritance	Details
Filter panels10 panels
Green in Adult onset leukodystrophy R-numbers: R62 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Sjogren-Larsson syndrome, OMIM:270200
Green in Childhood onset hereditary spastic paraplegia R-numbers: R61 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Sjogren-Larsson syndrome, OMIM:270200
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes SJOEGREN-LARSSON SYNDROME 270200
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes SJOEGREN-LARSSON SYNDROME
Green in Ichthyosis and erythrokeratoderma R-numbers: R165 Signed-off version 3.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Sjogren-Larsson syndrome, OMIM:270200
Green in Intellectual disability - microarray and sequencing Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Sjogren-Larsson syndrome, OMIM:270200
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 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Sjogren-Larsson syndrome, OMIM:270200
Green in Palmoplantar keratodermas R-numbers: R166 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Sjogren-Larsson syndrome, OMIM:270200
Green in Retinal disorders R-numbers: R32 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Sjogren-Larsson syndrome, OMIM:270200
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Sjogren-Larsson syndrome, OMIM:270200, General Leukodystrophy & Mitochondrial Leukoencephalopathy