B9D2

B9 domain containing 2
OMIM: 611951, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Red B9D2 in Familial Neural Tube Defects


Version 1.10

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Joubert syndrome 34, OMIM:614175
  • Meckel syndrome 10, OMIM:614175
  • Meckel syndrome, type 10, MONDO:0013609

Red B9D2 in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.18

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Joubert syndrome 34, OMIM:614175
  • Meckel syndrome 10, OMIM:614175
  • Meckel syndrome, type 10, MONDO:0013609

No list B9D2 in Limb disorders


Version 2.79
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Expert Review Removed
    • Victorian Clinical Genetics Services
    Phenotypes
    • Joubert syndrome 34, OMIM:614175
    • Meckel syndrome 10, OMIM:614175
    • Meckel syndrome, type 10, MONDO:0013609
    Tags
    • curated_removed

    No list B9D2 in Ductal plate malformation


    Version 1.19

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Removed
    • UKGTN
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    Phenotypes
    • Joubert syndrome 34, OMIM:614175
    • Meckel syndrome 10, OMIM:614175
    • Meckel syndrome, type 10, MONDO:0013609
    Tags
    • curated_removed

    Red B9D2 in Primary ciliary disorders

    Level 3: Respiratory ciliopathies
    Level 2: Ciliopathies
    Version 1.40

    review Not set
    Sources
    • Emory Genetics Laboratory
    Phenotypes
    • Joubert syndrome 34, OMIM:614175
    • Meckel syndrome 10, OMIM:614175
    • Meckel syndrome, type 10, MONDO:0013609

    Red B9D2 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.208
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • UKGTN
    • Expert list
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    Phenotypes
    • Joubert syndrome 34, OMIM:614175
    • Meckel syndrome 10, OMIM:614175
    • Meckel syndrome, type 10, MONDO:0013609

    Green B9D2 in Unexplained paediatric onset end-stage renal disease


    Version 1.37
    Latest signed off version: v1.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Joubert syndrome 34, OMIM:614175
    • Meckel syndrome 10, OMIM:614175
    • Meckel syndrome, type 10, MONDO:0013609

    Green B9D2 in Fetal anomalies


    Version 1.900
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Joubert syndrome 34, OMIM:614175
    • Meckel syndrome 10, OMIM:614175
    • Meckel syndrome, type 10, MONDO:0013609

    Green B9D2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1659
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Joubert syndrome 34, OMIM:614175
    • Meckel syndrome 10, OMIM:614175
    • Meckel syndrome, type 10, MONDO:0013609

    Green B9D2 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.160

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Orphanet
    • UKGTN
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Joubert syndrome 34, OMIM:614175
    • Meckel syndrome 10, OMIM:614175
    • Meckel syndrome, type 10, MONDO:0013609

    Green B9D2 in Ophthalmological ciliopathies


    Version 1.30
    Latest signed off version: v1.3 (19 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Illumina TruGenome Clinical Sequencing Services
    • Expert Review Green
    • Orphanet
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert list
    • Emory Genetics Laboratory
    Phenotypes
    • Joubert syndrome 34, OMIM:614175
    • Meckel syndrome 10, OMIM:614175
    • Meckel syndrome, type 10, MONDO:0013609

    Green B9D2 in Neurological ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.31
    Latest signed off version: v1.5 (4 Mar 2020)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Joubert syndrome 34, OMIM:614175
    • Meckel syndrome 10, OMIM:614175
    • Meckel syndrome, type 10, MONDO:0013609

    Green B9D2 in Renal ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.64
    Latest signed off version: v1.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Cystic renal disease
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Illumina TruGenome Clinical Sequencing Services
    • Expert Review Green
    • Orphanet
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert list
    • Emory Genetics Laboratory
    Phenotypes
    • Joubert syndrome 34, OMIM:614175
    • Meckel syndrome 10, OMIM:614175
    • Meckel syndrome, type 10, MONDO:0013609

    Red B9D2 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.241
    Latest signed off version: v1.137 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PanelApp
    • Expert Review Red
    • London North GLH
    Phenotypes
    • Joubert syndrome 34, OMIM:614175
    • Meckel syndrome 10, OMIM:614175
    • Meckel syndrome, type 10, MONDO:0013609

    Green B9D2 in Severe Paediatric Disorders


    Version 1.127

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Joubert syndrome 34, OMIM:614175
    • Meckel syndrome 10, OMIM:614175
    • Meckel syndrome, type 10, MONDO:0013609