Adult onset hereditary spastic paraplegia
Gene: DDHD2EnsemblGeneIds (GRCh38): ENSG00000085788
EnsemblGeneIds (GRCh37): ENSG00000085788
OMIM: 615003, Gene2Phenotype
DDHD2 is in 11 panels
3 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)
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.
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: 25 Apr 2019, 1:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 54, autosomal recessive, 615033
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Yorkshire and North East GLH
- Expert Review Green
- NHS GMS
- London North GLH
- Phenotypes
-
- Spastic paraplegia 54, autosomal recessive, 615033
- OMIM
- 615003
- Clinvar variants
- Variants in DDHD2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary spastic paraplegia
- DDG2P
- Intellectual disability
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Adult onset neurodegenerative disorder
History Filter Activity
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: DDHD2 were set to
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to DDHD2.
Added New Source, Set mode of inheritance, Set Phenotypes, Status Update
Louise Daugherty (Genomics England Curator)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)
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to DDHD2.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)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