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  3. DDHD2
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Ataxia - paediatric

Gene: DDHD2

Green List (high evidence)
DDHD2 (DDHD domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000085788
EnsemblGeneIds (GRCh37): ENSG00000085788
OMIM: 615003, Gene2Phenotype
DDHD2 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 families reported. Affected individuals have delayed development, intellectual disability, and early-onset spasticity of the lower limbs. Brain MRI shows a thin corpus callosum and periventricular white matter lesions. Brain magnetic resonance spectroscopy shows an abnormal lipid peak.
Created: 6 May 2022, 8:08 a.m. | Last Modified: 6 May 2022, 8:08 a.m.
Panel Version: 0.13903

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 54, autosomal recessive, MIM# 615033

Publications

Created: 6 May 2022, 8:08 a.m.
Last Modified: 6 May 2022, 8:08 a.m.
Panel version: Imported from Mendeliome panel version 0.13903

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Autosomal recessive paraplegia 54 (#615033). Complex form of disease ataxia reported amongst the phenotypic features in Citterio et al. (2014), Journal of Neurology, 261, pp.373-381 and Doi et al. (2014), Scientific Reports, 4, 7132.
  • Spastic paraplegia 54
OMIM
615003
Clinvar variants
Variants in DDHD2
Penetrance
None
Panels with this gene

History Filter Activity

19 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: DDHD2 was added gene: DDHD2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: DDHD2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DDHD2 were set to Autosomal recessive paraplegia 54 (#615033). Complex form of disease ataxia reported amongst the phenotypic features in Citterio et al. (2014), Journal of Neurology, 261, pp.373-381 and Doi et al. (2014), Scientific Reports, 4, 7132.; Spastic paraplegia 54