ASAH1

N-acylsphingosine amidohydrolase 1
OMIM: 613468, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Red ASAH1 in Motor Neurone Disease Level 2: Neurology and neurodevelopmental disorders Version 1.24 Component of the following Super Panels: Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Spinal muscular atrophy with progressive myoclonic epilepsy, 159950
Green ASAH1 in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 0.313	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Farber lipogranulomatosis, MIM# 228000
Green ASAH1 in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinal muscular atrophy with progressive myoclonic epilepsy, MIM# 159950 Farber lipogranulomatosis, MIM# 228000
Green ASAH1 in Pulmonary Fibrosis_Interstitial Lung Disease Level 2: Respiratory disorders Version 0.57	review	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Expert Review Green Victorian Clinical Genetics Services
Green ASAH1 in Lysosomal Storage Disorder Level 2: Metabolic conditions Version 1.11 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Farber lipogranulomatosis, MIM# 228000
Green ASAH1 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spinal muscular atrophy with progressive myoclonic epilepsy, 159950
Green ASAH1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Farber lipogranulomatosis MIM #228000
Green ASAH1 in Progressive Myoclonic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 0.19	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Expert list Phenotypes Spinal muscular atrophy with progressive myoclonic epilepsy, 159950
Green ASAH1 in Hereditary Neuropathy - complex Level 2: Neurology and neurodevelopmental disorders Version 1.14 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spinal muscular atrophy with progressive myoclonic epilepsy dHMN/dSMA
Green ASAH1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Farber lipogranulomatosis, 228000 (3)
Green ASAH1 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Farber lipogranulomatosis, MIM# 228000
Green ASAH1 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Farber lipogranulomatosis, 228000 (3)