Childhood onset hereditary spastic paraplegia
Gene: SLC16A2
Childhood onset, with features of spasticity. No additional patients identified using Sheffield panel.Created: 10 May 2019, 9:26 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications
Variants in this GENE are reported as part of current diagnostic practice
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:54 p.m.
Several publications in unrelated families with spasticity as clinicsl feature. In sheffields HSP panel. Victoria: GREENCreated: 28 Apr 2019, 4:16 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Allan-Herndon-Dudley syndrome 300523, XL
Onset at birthCreated: 14 Jan 2019, 5:24 p.m.
Publications for gene: SLC16A2 were set to 12871948; 14661163; 19194886
Phenotypes for gene: SLC16A2 were changed from Allan-Herndon-Dudley syndrome, 300523 to Allan-Herndon-Dudley syndrome, OMIM:300523
Publications for gene: SLC16A2 were set to 12871948
Source Yorkshire and North East GLH was added to SLC16A2.
Source NHS GMS was added to SLC16A2.
Source London North GLH was added to SLC16A2.
Added phenotypes Allan-Herndon-Dudley syndrome, 300523 for gene: SLC16A2
Arianna Tucci: Onset at birth
Publications for gene: SLC16A2 were set to Friesema et al. (2003)
Phenotypes for gene: SLC16A2 were changed from to Allan-Herndon-Dudley syndrome, 300523
gene: SLC16A2 was added gene: SLC16A2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Green Mode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SLC16A2 were set to Friesema et al. (2003)