Hyperammonaemia
Gene: SMPD1
SMPD1 (sphingomyelin phosphodiesterase 1)
EnsemblGeneIds (GRCh38): ENSG00000166311
EnsemblGeneIds (GRCh37): ENSG00000166311
OMIM: 607608, Gene2Phenotype
SMPD1 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000166311
EnsemblGeneIds (GRCh37): ENSG00000166311
OMIM: 607608, Gene2Phenotype
SMPD1 is in 13 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Please note that phenotypes that already existed for this gene panel (viewed under Gene Summary) and Ensembl transcripts were accidently uploaded under Peter Clayton (UCL Institute of Child Health)'s review and were not suggested by him. We are working on a fix in PanelApp to correct this.Created: 5 Nov 2015, 5:19 p.m.
Peter Clayton (UCL Institute of Child Health)
Severe liver dysfunction possible but hyperammonaemia not a presenting featureCreated: 5 Nov 2015, 4:51 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Niemann-Pick A/B
Details
- Sources
-
- Emory Genetics Laboratory
- OMIM
- 607608
- Clinvar variants
- Variants in SMPD1
- Penetrance
- Complete
- Panels with this gene
-
- Niemann-Pick disease type A or B
- DDG2P
- Familial pulmonary fibrosis
- Neonatal cholestasis
- Hyperammonaemia
- Fetal anomalies
- Undiagnosed metabolic disorders
- Fetal hydrops
- Lysosomal storage disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Cholestasis
History Filter Activity
22 Nov 2016, Gel status: 1
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 on 22nd November 2016
5 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)SMPD1 was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory