1. Genes and Genomic Entities
  2. DHDDS

DHDDS

dehydrodolichyl diphosphate synthase subunit
OMIM: 608172, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels
Red DHDDS in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.47

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Retinitis pigmentosa 59, OMIM:613861
Green DHDDS in Ataxia and cerebellar anomalies - narrow panel


Level 2: Neurology
Version 8.64
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Developmental delay and seizures with or without movement abnormalities, OMIM:617836
    Red DHDDS in Congenital disorders of glycosylation


    Level 2: Metabolic
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    Phenotypes
    • Retinitis pigmentosa 59, OMIM:613861
    • ?Congenital disorder of glycosylation, type 1bb, OMIM:613861
    Amber DHDDS in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.643

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Retinitis pigmentosa 59, OMIM:613861
    • ?Congenital disorder of glycosylation, type 1bb, OMIM:613861
    Amber DHDDS in Likely inborn error of metabolism


    Level 2: Metabolic
    Version 8.92
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • London North GLH
    • NHS GMS
    Phenotypes
    • Retinitis pigmentosa 59, OMIM:613861
    • ?Congenital disorder of glycosylation, type 1bb, OMIM:613861
    Amber DHDDS in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.155
    Latest signed off version: v6.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Epilepsy and intellectual disability
    Green DHDDS in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Epilepsy and intellectual disability
    Green DHDDS in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.133
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Developmental delay and seizures with or without movement abnormalities, OMIM:617836
    Green DHDDS in Intellectual disability


    Level 2: Developmental disorders
    Version 9.296
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Developmental delay and seizures with or without movement abnormalities, OMIM:617836
    Green DHDDS in Retinal disorders


    Level 2: Ophthalmology
    Version 8.95
    Latest signed off version: v8.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Retinitis pigmentosa 59, OMIM:613861
    Red DHDDS in Structural eye disease


    Level 2: Ophthalmology
    Version 4.37
    Latest signed off version: v4.0 (7 Aug 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Retinitis pigmentosa 59, OMIM:613861
    Green DHDDS in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Developmental delay and seizures with or without movement abnormalities, OMIM:617836