Genomics England

ASAH1

N-acylsphingosine amidohydrolase 1

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.48	BIALLELIC, autosomal or pseudoautosomal	Phenotypes FARBER LIPOGRANULOMATOSIS 228000, SPINAL MUSCULAR ATROPHY ASSOCIATED WITH PROGRESSIVE MYOCLONIC EPILEPSY 159950
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 7.54	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spinal muscular atrophy with progressive myoclonic epilepsy, 159950, SMA with myoclonic epilepsy
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.80	BIALLELIC, autosomal or pseudoautosomal	Phenotypes SPINAL MUSCULAR ATROPHY ASSOCIATED WITH PROGRESSIVE MYOCLONIC EPILEPSY, FARBER LIPOGRANULOMATOSIS
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 6.163	BIALLELIC, autosomal or pseudoautosomal	Phenotypes spinal muscular atrophy-progressive myoclonic epilepsy syndrome, MONDO:0008045, Spinal muscular atrophy with progressive myoclonic epilepsy, OMIM:159950
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 8.134	BIALLELIC, autosomal or pseudoautosomal	Phenotypes FARBER LIPOGRANULOMATOSIS
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 7.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spinal muscular atrophy with progressive myoclonic epilepsy 159950, Farber lipogranulomatosis 228000, Fetal hydrops, Intellectual disability
Green in Lysosomal storage disorder R-numbers: R276 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Farber lipogranulomatosis OMIM:228000, Farber lipogranulomatosis MONDO:0009218
Green in Paediatric motor neuronopathies Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders Signed-off version 3.9	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spinal muscular atrophy with progressive myoclonic epilepsy, OMIM:159950