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  3. DHDDS
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Early-onset Parkinson disease

Gene: DHDDS

Amber List (moderate evidence)
DHDDS (dehydrodolichyl diphosphate synthase subunit)
EnsemblGeneIds (GRCh38): ENSG00000117682
EnsemblGeneIds (GRCh37): ENSG00000117682
OMIM: 608172, Gene2Phenotype
DHDDS is in 11 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Literature review in PMID 34837344: only one individual described as having parkinsonism, though a range of other movement disorders reported.
Created: 20 Jul 2022, 12:31 a.m. | Last Modified: 20 Jul 2022, 12:31 a.m.
Panel Version: 0.198

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental delay and seizures with or without movement abnormalities, MIM# 617836

Publications

Created: 20 Jul 2022, 12:31 a.m.
Last Modified: 20 Jul 2022, 12:31 a.m.
Panel version: 0.198

SHEKEEB MOHAMMAD (Children's Hospital at Westmead)

Green List (high evidence)

Sources: Literature
Created: 17 Jul 2022, 9:10 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Myoclonic Epilepsy; Parkinsonism; Ataxia; Intellectual disability; OMIM 617836

Publications

Created: 17 Jul 2022, 9:10 p.m.

Panel version: 0.134

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Developmental delay and seizures with or without movement abnormalities, MIM# 617836
  • Myoclonic Epilepsy
  • Parkinsonism
  • Ataxia
  • Intellectual disability
OMIM
608172
Clinvar variants
Variants in DHDDS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Jul 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dhdds has been classified as Amber List (Moderate Evidence).

20 Jul 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DHDDS were changed from Myoclonic Epilepsy; Parkinsonism; Ataxia; Intellectual disability; OMIM 617836 to Developmental delay and seizures with or without movement abnormalities, MIM# 617836; Myoclonic Epilepsy; Parkinsonism; Ataxia; Intellectual disability

20 Jul 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DHDDS were set to PMID: 34837344, 29100083

20 Jul 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dhdds has been classified as Amber List (Moderate Evidence).

17 Jul 2022, Gel status: 0

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

SHEKEEB MOHAMMAD (Children's Hospital at Westmead)

gene: DHDDS was added gene: DHDDS was added to Early-onset Parkinson disease. Sources: Literature Mode of inheritance for gene: DHDDS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DHDDS were set to PMID: 34837344, 29100083 Phenotypes for gene: DHDDS were set to Myoclonic Epilepsy; Parkinsonism; Ataxia; Intellectual disability; OMIM 617836 Review for gene: DHDDS was set to GREEN