SMPD1

sphingomyelin phosphodiesterase 1
OMIM: 607608, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Red SMPD1 in Cholestasis Level 2: Gastroenterological disorders Version 1.0 Component of the following Super Panels: Liverome Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Niemann-Pick disease
Green SMPD1 in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 0.325	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Niemann-Pick disease, type A, MIM# 257200 MONDO:0009756
Green SMPD1 in Mendeliome Version 1.2656	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Niemann-Pick disease, type A, MIM# 257200 MONDO:0009756 Niemann-Pick disease, type B, MIM# 607616 MONDO:0011871
Green SMPD1 in Pulmonary Fibrosis_Interstitial Lung Disease Level 2: Respiratory disorders Version 0.87	review	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green
Green SMPD1 in Lysosomal Storage Disorder Level 2: Metabolic conditions Version 1.17 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 Niemann-Pick disease, type A, MIM# 257200 MONDO:0009756 Niemann-Pick disease, type B, MIM# 607616 MONDO:0011871
Green SMPD1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.174	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Niemann-Pick disease, type A, MIM# 257200 MONDO:0009756
Green SMPD1 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 Niemann-Pick disease, type A, 257200 (3)
Green SMPD1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Niemann-Pick disease, type A Niemann-Pick disease, type B
Green SMPD1 in Fetal anomalies Version 1.370	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Niemann-Pick disease, type A, MIM# 257200 MONDO:0009756
Green SMPD1 in Prepair 1000+ Level 2: Screening Version 2.13	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Niemann-Pick disease, type A, 257200 Niemann-Pick disease, type B, 607616
Green SMPD1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.121	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes Niemann-Pick disease, type A, MIM# 257200 Niemann-Pick disease, type B, MIM# 607616 Tags treatable metabolic
Green SMPD1 in Prepair 500+ Level 2: Screening Version 2.0	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Niemann-Pick disease, type A, MIM#257200 Niemann-Pick disease, type B, MIM#607616