Cholestasis
Gene: SMPD1
SMPD1 (sphingomyelin phosphodiesterase 1)
EnsemblGeneIds (GRCh38): ENSG00000166311
EnsemblGeneIds (GRCh37): ENSG00000166311
OMIM: 607608, Gene2Phenotype
SMPD1 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000166311
EnsemblGeneIds (GRCh37): ENSG00000166311
OMIM: 607608, Gene2Phenotype
SMPD1 is in 12 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Hepatomegaly but no specific association with cholestasis.Created: 9 Aug 2020, 11:04 a.m. | Last Modified: 9 Aug 2020, 11:04 a.m.
Panel Version: 0.163
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Niemann-Pick disease
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Phenotypes
-
- Niemann-Pick disease
- OMIM
- 607608
- Clinvar variants
- Variants in SMPD1
- Penetrance
- None
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Cholestasis
- Pulmonary Fibrosis_Interstitial Lung Disease
- Mendeliome
- BabyScreen+ newborn screening
- Lysosomal Storage Disorder
- Hydrops fetalis
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
History Filter Activity
9 Aug 2020, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: smpd1 has been classified as Red List (Low Evidence).
9 Aug 2020, Gel status: 1
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SMPD1 were changed from to Niemann-Pick disease
9 Aug 2020, Gel status: 1
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: SMPD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
9 Aug 2020, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: smpd1 has been classified as Red List (Low Evidence).
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SMPD1 was added gene: SMPD1 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SMPD1 was set to Unknown