CTSD

cathepsin D
OMIM: 116840, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Red CTSD in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.5

Component of the following Super Panels:

  • Merge for Structural eye disease v2.0
  • review Not set
    Sources
    • Emory Genetics Laboratory
    Phenotypes
    • Eye Disorders

    Green CTSD in Lysosomal storage disorder


    Version 1.0

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • North London GLH
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 10 610127

    Green CTSD in Neuronal ceroid lipofuscinosis


    Version 1.0

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green

    Green CTSD in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.411

    Component of the following Super Panels:

  • Merge for inborn errors of metabolism v2.99
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Literature
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 10 610127

    Green CTSD in Inborn errors of metabolism


    Version 1.407

    Component of the following Super Panels:

  • Merge for Molecular autopsy v5.171
  • Paediatric disorders v4.397
  • White matter disorders - childhood onset v4.229
  • Hypotonic infant with a likely central cause v3.1049
  • Hereditary ataxia and cerebellar anomalies - childhood onset v3.433
  • Merge for Cardiomyopathies - including childhood onset v3.193
  • Epilepsy - early onset or syndromic v2.907
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 10, 610127

    Green CTSD in Fetal anomalies


    Version 0.346

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • NEURONAL CEROID LIPOFUSCINOSIS TYPE 10

    Green CTSD in DDG2P


    Version 1.148

    Component of the following Super Panels:

  • Paediatric disorders v4.397
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • NEURONAL CEROID LIPOFUSCINOSIS TYPE 10 610127

    Green CTSD in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.407

    Component of the following Super Panels:

  • Epilepsy - early onset or syndromic v2.907
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Expert
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 10, 610127

    Green CTSD in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.1098

    Component of the following Super Panels:

  • Paediatric disorders v4.397
  • White matter disorders - childhood onset v4.229
  • Hypotonic infant with a likely central cause v3.1049
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 10, 610127
    • NEURONAL CEROID LIPOFUSCINOSIS TYPE 10 (CLN10)

    Green CTSD in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 1.221

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Eye Disorders
    • Ceroid lipofuscinosis, neuronal, 10, 610127

    Red CTSD in Structural eye disease


    Version 0.95

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • CEROID LIPOFUSCINOSIS, NEURONAL, 10, 610127
    • Eye Disorders