1. Genes and Genomic Entities
  2. BDP1

BDP1

B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB
OMIM: 607012, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red BDP1 in Monogenic hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.38
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review Not set
    Sources
    • Expert Review Red
    • Expert
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • No OMIM phenotypeHearing loss (Girotto (2013) PLoS One 8,e80323)
    • PMID: 24312468 moderate to severe hearing impairment
    Red BDP1 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.536
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review Unknown
    Sources
    • Expert Review Red