Hereditary ataxia with onset in adulthood
Gene: 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 Still unpublished.Created: 19 Jun 2019, 12:59 p.m.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 groupCreated: 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 Seems to have been added solely on the basis of a GEL Curator seeing unpublished work at 2018 ESHGCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
Unknown
Phenotypes
Unknown
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