Childhood onset hereditary spastic paraplegia
Gene: DDHD1
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 3 unrelated families from different ethnic populations, In Sheffields HSP panelCreated: 28 Apr 2019, 4:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 28, autosomal recessive, 609340
Spastic paraplegia 28 onset in childhood/ adolescenceCreated: 14 Jan 2019, 4:39 p.m.
Publications for gene: DDHD1 were set to 23176821
Source Yorkshire and North East GLH was added to DDHD1.
Source NHS GMS was added to DDHD1.
Source London North GLH was added to DDHD1.
Added phenotypes Spastic paraplegia 28, autosomal recessive, 609340 for gene: DDHD1
Arianna Tucci: Spastic paraplegia 28 onset in
Publications for gene: DDHD1 were set to Tesson et al. (2012)
Phenotypes for gene: DDHD1 were changed from Spastic paraplegia 28, autosomal recessive, 23176821 to Spastic paraplegia 28, autosomal recessive, 609340
Phenotypes for gene: DDHD1 were changed from Spastic paraplegia 28, autosomal recessive to Spastic paraplegia 28, autosomal recessive, 23176821
gene: DDHD1 was added gene: DDHD1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green Mode of inheritance for gene: DDHD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDHD1 were set to Tesson et al. (2012) Phenotypes for gene: DDHD1 were set to Spastic paraplegia 28, autosomal recessive