SMPD1

sphingomyelin phosphodiesterase 1
OMIM: 607608, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Red SMPD1 in Hyperammonaemia Level 3: Urea Cycle disorders Level 2: Metabolic disorders Version 1.22	review	Not set	Sources Emory Genetics Laboratory
Green SMPD1 in Neonatal cholestasis Level 3: Liver disease Level 2: Gastroenterological disorders Version 1.29	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Emory Genetics Laboratory Phenotypes Niemann-Pick disease, type A 257200
Green SMPD1 in Fetal hydrops Level 3: Fetal disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.95	review	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert Review Green Literature Phenotypes Niemann-Pick disease, type A, 257200
Green SMPD1 in Familial pulmonary fibrosis Level 3: Interstitial lung disorders Level 2: Respiratory disorders Version 1.32	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Emory Genetics Laboratory Phenotypes Niemann-Pick disease, type A 257200 Niemann-Pick disease, type B 607616
Green SMPD1 in Cholestasis Level 2: Gastrohepatology Version 3.19 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Niemann-Pick disease, type A, OMIM:257200, MONDO:0009756
Green SMPD1 in Lysosomal storage disorder Level 2: Metabolic Version 3.5 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green North London GLH Phenotypes Niemann-Pick disease, type A OMIM:257200 Niemann-Pick disease type A MONDO:0009756 Niemann-Pick disease, type B OMIM:607616 Niemann-Pick disease type B MONDO:0011871
Green SMPD1 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.645	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Literature Phenotypes Niemann-Pick disease, type A 257200 Niemann-Pick disease, type B 607616
Green SMPD1 in Likely inborn error of metabolism Level 2: Metabolic Version 8.107 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Niemann-Pick disease, type A, 257200 Niemann-Pick disease, type B, 607616
Amber SMPD1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.185 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS PAGE DD-Gene2Phenotype Phenotypes Niemann-Pick disease, type B, OMIM:607616 Niemann-Pick disease, type A, OMIM:257200
Green SMPD1 in DDG2P Version 6.447 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NIEMANN-PICK DISEASE TYPE B 607616 NIEMANN-PICK DISEASE TYPE A 257200
Green SMPD1 in Intellectual disability Level 2: Developmental disorders Version 9.370 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Niemann-Pick disease, type A, 257200Niemann-Pick disease, type B, 607616 NIEMANN-PICK DISEASE TYPE A (NPDA)
Red SMPD1 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.20 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH
Green SMPD1 in Niemann-Pick disease type A or B Level 2: Metabolic Version 1.3 Latest signed off version: v1.0 (14 Sep 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Niemann-Pick disease, type A, OMIM:257200 Niemann-Pick disease, type B, OMIM:607616 Niemann-Pick disease type A, MONDO:0009756 Niemann-Pick disease type B, MONDO:0011871