Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: SMPD4

Amber List (moderate evidence)

SMPD4 (sphingomyelin phosphodiesterase 4)
EnsemblGeneIds (GRCh38): ENSG00000136699
EnsemblGeneIds (GRCh37): ENSG00000136699
OMIM: 610457, Gene2Phenotype
SMPD4 is in 7 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • cerebellar hypoplasia, hypomyelination, microcephaly, arthrogryposis, diabetes
OMIM
610457
Clinvar variants
Variants in SMPD4
Penetrance
None
Panels with this gene

History Filter Activity

9 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Comment on list classification

19 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: SMPD4 was added gene: SMPD4 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Amber Mode of inheritance for gene: SMPD4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SMPD4 were set to cerebellar hypoplasia, hypomyelination, microcephaly, arthrogryposis, diabetes