1. Genes and Genomic Entities
  2. BTD

BTD

biotinidase
OMIM: 609019, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels
Green BTD in Ketotic hypoglycaemia

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.10

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • lactic acidosis with seizures and eczema,immune deficiency
Green BTD in Optic neuropathy


Level 2: Ophthalmology
Version 5.54
Latest signed off version: v5.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Biotinidase deficiency, OMIM:253260
  • optic atrophy, MONDO:0003608
Green BTD in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.645

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Biotinidase deficiency (Disorders of biotin metabolism)
  • lactic acidosis with seizures and eczema,immune deficiency
  • Biotinidase deficiency
Green BTD in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.107
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
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Biotinidase deficiency (Disorders of biotin metabolism)
    • Biotinidase deficiency
    • lactic acidosis with seizures and eczema,immune deficiency
    Green BTD in Possible mitochondrial disorder - nuclear genes


    Level 2: Mitochondrial
    Version 4.27
    Latest signed off version: v4.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Biotinidase deficiency, 253260
    Green BTD in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.185
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • BIOTINIDASE DEFICIENCY
    Green BTD in DDG2P


    Version 6.447
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • BIOTINIDASE DEFICIENCY 253260
    Red BTD in Monogenic hearing loss


    Level 2: Audiology
    Version 5.64
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review Not set
    Sources
    • Emory Genetics Laboratory
    Phenotypes
    • hearing loss
    Green BTD in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.173
    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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Expert
    Phenotypes
    • Biotinidase deficiency 253260
    Green BTD in Intellectual disability


    Level 2: Developmental disorders
    Version 9.370
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Biotinidase deficiency, 253260
    • BIOTINIDASE DEFICIENCY
    Green BTD in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 9.51
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert Review
    Phenotypes
    • Biotinidase deficiency, OMIM:253260
    • biotinidase deficiency, MONDO:0009665
    Red BTD in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.20
    Latest signed off version: v7.0 (30 Apr 2025)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH