Genomics England

ALDH3A2

aldehyde dehydrogenase 3 family member A2

Panel	Mode of inheritance	Details
Filter panels10 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes SJOEGREN-LARSSON SYNDROME 270200
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes SJOEGREN-LARSSON SYNDROME
Green in Hereditary spastic paraplegia, childhood onset R-numbers: R61 Signed-off version 9.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Sjogren-Larsson syndrome, OMIM:270200
Green in Ichthyosis and erythrokeratoderma R-numbers: R165 Signed-off version 4.16	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Sjogren-Larsson syndrome, OMIM:270200
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 Sjogren-Larsson syndrome, OMIM:270200
Green in Leukodystrophy, adult onset R-numbers: R62 Signed-off version 7.8	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Sjogren-Larsson syndrome, OMIM:270200
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 Sjogren-Larsson syndrome, OMIM:270200
Green in Palmoplantar keratodermas R-numbers: R166 Signed-off version 4.16	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Sjogren-Larsson syndrome, OMIM:270200
Green in Retinal disorders R-numbers: R32 Signed-off version 9.14	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Sjogren-Larsson syndrome, OMIM:270200
Green in White matter disorders and cerebral calcification - childhood onset Component of the following Super Panels: - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 8.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Sjogren-Larsson syndrome, OMIM:270200, General Leukodystrophy & Mitochondrial Leukoencephalopathy