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  2. Hereditary ataxia with onset in adulthood
  3. SMPD4
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Hereditary ataxia with onset in adulthood

Gene: SMPD4

Red List (low evidence)
SMPD4 (sphingomyelin phosphodiesterase 4)
EnsemblGeneIds (GRCh38): ENSG00000136699
EnsemblGeneIds (GRCh37): ENSG00000136699
OMIM: 610457, Gene2Phenotype
SMPD4 is in 9 panels

3 reviews

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Red List (low evidence)

Not yet listed as associated with disease in OMIM. Not in HGMD.
Created: 27 Apr 2019, 7:39 p.m.
Created: 27 Apr 2019, 7:39 p.m.

Panel version: 1.11

Louise Daugherty (Genomics England Curator)

I don't know

To clarify, this gene was uploaded by the GLH from a gene list submitted for R54. The gene SMPD4 is rated AMBER on the following Rare Disease 100K PanelApp panels : Cerebellar hypoplasia, Arthrogryposis, Intellectual disability, due to work presented at ESHG 2018 by Pamela Magini: three unrelated families with ID, cerebellar hypoplasia, arthrogryposis. Still unpublished.
Created: 19 Jun 2019, 12:59 p.m.
Review and rating submitted byJames Polke (London North GLH), on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.
Created: 15 Apr 2019, 10:21 a.m.

Panel version: 1.171

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Can see no published evidence in the literature linking this gene to any relevant human phenotype. Seems to have been added solely on the basis of a GEL Curator seeing unpublished work at 2018 ESHG
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
Unknown

Phenotypes
Unknown

Created: 15 Apr 2019, 10:06 a.m.

Panel version: 1.7

History Filter Activity

27 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GMS was added to SMPD4.

14 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SMPD4.

14 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: SMPD4 was added gene: SMPD4 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: SMPD4 was set to