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  3. SMPDL3A
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Pain syndromes

Gene: SMPDL3A

Red List (low evidence)
SMPDL3A (sphingomyelin phosphodiesterase acid like 3A)
EnsemblGeneIds (GRCh38): ENSG00000172594
EnsemblGeneIds (GRCh37): ENSG00000172594
OMIM: 610728, Gene2Phenotype
SMPDL3A is in 2 panels

1 review

Seb Lunke (Victorian Clinical Genetics Services)

Red List (low evidence)

Hom missense variant in twin sisters with deverely reduced pain and temperature sensation
Sources: Literature
Created: 11 Jun 2021, 5:40 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sensory Neuropathy

Publications

Created: 11 Jun 2021, 5:40 a.m.

Panel version: 0.27

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Sensory Neuropathy
OMIM
610728
Clinvar variants
Variants in SMPDL3A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Jun 2021, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: smpdl3a has been classified as Red List (Low Evidence).

11 Jun 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

gene: SMPDL3A was added gene: SMPDL3A was added to Pain syndromes. Sources: Literature Mode of inheritance for gene: SMPDL3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMPDL3A were set to 33884296 Phenotypes for gene: SMPDL3A were set to Sensory Neuropathy Review for gene: SMPDL3A was set to RED