Fetal hydrops

Gene: SMPD1

Green List (high evidence)

SMPD1 (sphingomyelin phosphodiesterase 1)
EnsemblGeneIds (GRCh38): ENSG00000166311
EnsemblGeneIds (GRCh37): ENSG00000166311
OMIM: 607608, Gene2Phenotype
SMPD1 is in 13 panels

1 review

Rebecca Foulger (Genomics England curator)

Confirmed DD gene for NPA (OMIM:257200). >3 cases in OMIM of SMPD1 mutations linked to Niemann-Pick disease A. Although PMID:23137060 (Whybra et al., 2012) state that two reported cases of Niemann-Pick disease, type A (OMIM:257200) and NIHF (in PMID:15305357, Burin et al., 2004) may be the exception, many papers cite Niemann-Pick disease A as one of the lysosomal storage disorders associated with Fetal hydrops.
Created: 21 Dec 2016, 11:44 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Literature
  • Expert Review Green
Phenotypes
  • Niemann-Pick disease, type A, 257200
OMIM
607608
Clinvar variants
Variants in SMPD1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

21 Dec 2016, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

21 December 2016. External reviews were assessed, and panel was revised according to expert review, internal discussion and additional curation. Following internal discussion, all genes from the V1.14 'RASopathies' panel were added as green EXCLUDING NF1 and SPRED1- a cautious approach was taken because Fetal hydrops is a fetal panel. All relevant genes from the 'Mucopolysaccharideosis, Gaucher, Fabry' V1.0 panel (lysosomal storage disorders) were also added to the Fetal hydrops panel as green together with genes from the literature where there is a reasonable link between the corresponding lysosomal storage disorder (LSD) and Fetal hydrops. All PEX genes from the V1.2 'Peroxisomal disorders' panel were added as green based on a link between peroxisomal biogenesis disorders and Fetal hydrops.

21 Dec 2016, Gel status: 4

Upload gene information

Rebecca Foulger (Genomics England curator)

SMPD1 was added to Fetal hydropspanel. Sources: Eligibility statement prior genetic testing

21 Dec 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

SMPD1 was created by rfoulger

21 Dec 2016, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

SMPD1 was added to Fetal hydropspanel. Sources: Literature, Expert Review Green