Childhood onset hereditary spastic paraplegia
Gene: DDHD2EnsemblGeneIds (GRCh38): ENSG00000085788
EnsemblGeneIds (GRCh37): ENSG00000085788
OMIM: 615003, Gene2Phenotype
DDHD2 is in 11 panels
4 reviews
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
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
Louise Daugherty (Genomics England Curator)
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.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
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
Arianna Tucci (Genomics England Curator)
onset in infancy for Spastic paraplegia 54Created: 14 Jan 2019, 4:40 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
- Expert Review Green
- Expert list
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Spastic paraplegia 54, autosomal recessive, 615033
- OMIM
- 615003
- Clinvar variants
- Variants in DDHD2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Adult onset neurodegenerative disorder
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary spastic paraplegia
- DDG2P
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
History Filter Activity
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: DDHD2 were set to 23176823
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to DDHD2.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to DDHD2.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to DDHD2.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Spastic paraplegia 54, autosomal recessive, 615033 for gene: DDHD2
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Arianna Tucci: onset in infancy for Spastic p
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: DDHD2 were changed from Spastic paraplegia 54, autosomal recessive to Spastic paraplegia 54, autosomal recessive, 615033
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: DDHD2 were set to Schuurs-Hoeijmakers et al. (2012)
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sarah Leigh (Genomics England Curator)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