Childhood onset hereditary spastic paraplegia
Gene: DDHD2
Majority of cases are childhood onset but at least one case reported of adult onset disease.Created: 9 May 2019, 12:03 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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.
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 panelCreated: 28 Apr 2019, 4:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 54, autosomal recessive, 615033
onset in infancy for Spastic paraplegia 54Created: 14 Jan 2019, 4:40 p.m.
Publications for gene: DDHD2 were set to 23176823
Source Yorkshire and North East GLH was added to DDHD2.
Source NHS GMS was added to DDHD2.
Source London North GLH was added to DDHD2.
Added phenotypes Spastic paraplegia 54, autosomal recessive, 615033 for gene: DDHD2
Arianna Tucci: onset in infancy for Spastic p
Phenotypes for gene: DDHD2 were changed from Spastic paraplegia 54, autosomal recessive to Spastic paraplegia 54, autosomal recessive, 615033
Publications for gene: DDHD2 were set to Schuurs-Hoeijmakers et al. (2012)
gene: DDHD2 was added gene: DDHD2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green Mode of inheritance for gene: DDHD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDHD2 were set to Schuurs-Hoeijmakers et al. (2012) Phenotypes for gene: DDHD2 were set to Spastic paraplegia 54, autosomal recessive