Hereditary spastic paraplegia - adult onsetGene: DDHD2
Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 4:50 p.m.
mutations published in several unrelated families. phenotype was characterised by delayed psychomotor development, intellectual disability, and early-onset spasticity of the lower limbs, early onset of spastic paraplegia, mental retardation, and thin corpus callosum. In Sheffields HSP panel
Created: 25 Apr 2019, 1:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Spastic paraplegia 54, autosomal recessive, 615033
Publications for gene: DDHD2 were set to
Source Yorkshire and North East GLH was added to DDHD2.
Source Expert Review Green was added to DDHD2. Mode of inheritance for gene DDHD2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia 54, autosomal recessive, 615033 for gene: DDHD2 Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to DDHD2.
gene: DDHD2 was added gene: DDHD2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: DDHD2 was set to