DHDDS

dehydrodolichyl diphosphate synthase subunit
OMIM: 608172, Gene2Phenotype

13 panels

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

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.45

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


Version 4.56
Latest signed off version: v4.0 (22 Mar 2023)

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 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 4.18
    Latest signed off version: v4.0 (22 Mar 2023)

    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 1.613

    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 - targeted testing not possible


    Version 4.131
    Latest signed off version: v4.0 (22 Mar 2023)

    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


    Version 3.136
    Latest signed off version: v3.0 (22 Mar 2023)

    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 3.79
    Latest signed off version: v3.1 (22 Mar 2023)

    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 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.175
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • 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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.477
    Latest signed off version: v5.0 (22 Mar 2023)

    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 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.81
    Latest signed off version: v4.0 (22 Mar 2023)

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


    Version 3.74
    Latest signed off version: v3.0 (22 Mar 2023)

    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


    Version 3.71
    Latest signed off version: v3.0 (22 Mar 2023)

    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
    Green DHDDS in Severe Paediatric Disorders


    Version 1.182

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • ?Congenital disorder of glycosylation, type 1bb, 613861
    • Developmental delay and seizures with or without movement abnormalities, 617836
    • Retinitis pigmentosa 59, 613861