Hereditary ataxia - adult onsetGene: SMPD4
Not yet listed as associated with disease in OMIM. Not in HGMD.
Created: 27 Apr 2019, 7:39 p.m.
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 Still unpublished.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.
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 Seems to have been added solely on the basis of a GEL Curator seeing unpublished work at 2018 ESHG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
Source London North GMS was added to SMPD4.
Source NHS GMS was added to SMPD4.
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