Familial pulmonary fibrosis
Gene: SMPD1EnsemblGeneIds (GRCh38): ENSG00000166311
EnsemblGeneIds (GRCh37): ENSG00000166311
OMIM: 607608, Gene2Phenotype
SMPD1 is in 13 panels
3 reviews
Louise Daugherty (Genomics England Curator)
Comment on publications: Added publications suggested by expert reviewerCreated: 27 Apr 2017, 3:48 p.m.
Philip Molyneaux (Imperial College)
Niemann-Pick disease associated with pulmonary fibrosis, PMID: 16623786Created: 26 Apr 2017, 9:38 a.m.
Alice Gardham (Genomics England)
Infiltration with "foam cells" seenCreated: 9 Feb 2017, 2:29 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Niemann-Pick disease, type A 257200; Niemann-Pick disease, type B 607616
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Niemann-Pick disease, type A 257200
- Niemann-Pick disease, type B 607616
- OMIM
- 607608
- Clinvar variants
- Variants in SMPD1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Niemann-Pick disease type A or B
- DDG2P
- Familial pulmonary fibrosis
- Intellectual disability
- Neonatal cholestasis
- Hyperammonaemia
- Fetal anomalies
- Undiagnosed metabolic disorders
- Fetal hydrops
- Lysosomal storage disorder
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Cholestasis
History Filter Activity
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation. 27th April 2017
Set publications
Louise Daugherty (Genomics England Curator)Publications for SMPD1 were set to 15331184;16623786
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Added New Source
Alice Gardham (Genomics England)SMPD1 was added to Familial pulmonary fibrosispanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
Created
Alice Gardham (Genomics England)SMPD1 was created by agardham