B9D1

B9 domain containing 1
OMIM: 614144, Gene2Phenotype

16 panels

Panel Reviews Mode of inheritance Details
16 panels

Red B9D1 in Familial Neural Tube Defects


Version 1.5

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Meckel Syndrome

Red B9D1 in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.7

review Not set
Sources
  • Emory Genetics Laboratory

Red B9D1 in Limb disorders


Version 2.3
Signed off v.2.2 on 13 Feb 2020

Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Polydactyly
    • ?Meckel syndrome 9 614209
    • Joubert syndrome 27 617120

    Amber B9D1 in Ductal plate malformation


    Version 1.10

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Amber
    • UKGTN
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    Phenotypes
    • ?Meckel syndrome 9 (614209)
    • Joubert syndrome 27 (617120)
    Tags
    • watchlist

    Amber B9D1 in Polycystic liver disease interim


    Version 1.3
    Signed off v.1.2 on 19 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    • NHS GMS
    • UKGTN
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    Phenotypes
    • ?Meckel syndrome 9 (614209)
    • Joubert syndrome 27 (617120)

    Red B9D1 in Primary ciliary disorders

    Level 3: Respiratory ciliopathies
    Level 2: Ciliopathies
    Version 1.22

    review Not set
    Sources
    • Emory Genetics Laboratory
    Phenotypes
    • ciliopathies

    Amber B9D1 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.3
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    • Expert list
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    Phenotypes
    • Meckel syndrome 9 614209

    Amber B9D1 in Fetal anomalies


    Version 1.3
    Signed off v.1.2 on 17 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • MECKEL SYNDROME 9

    Amber B9D1 in DDG2P


    Version 2.3
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Amber
    Phenotypes
    • MECKEL SYNDROME 9 614209

    Red B9D1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.3
    Signed off v.3.2 on 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 Red
    Phenotypes
    • ?Meckel syndrome 9 614209
    • Joubert syndrome 27 617120

    Red B9D1 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.124

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Illumina TruGenome Clinical Sequencing Services
    • Other
    • Orphanet
    • UKGTN
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • ?Meckel syndrome 9, 614209
    • ciliopathies
    • Meckel syndrome
    • Joubert syndrome 27
    Tags
    • polygenic

    Red B9D1 in Ophthalmological ciliopathies


    Version 1.4
    Signed off v.1.3 on 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
    • Orphanet
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert list
    • Other
    • Expert Review Red
    • Emory Genetics Laboratory
    Phenotypes
    • ?Meckel syndrome 9, 614209
    • ciliopathies
    • Meckel syndrome
    • Joubert syndrome 27

    Red B9D1 in Neurological ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.2
    Signed off v.1.0 on 11 Dec 2019

    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 Red
    Phenotypes
    • ?Meckel syndrome 9, 614209
    • ciliopathies
    • Meckel syndrome
    • Joubert syndrome 27

    Red B9D1 in Renal ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.1
    Signed off v.1.0 on 3 Sep 2019

    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
    • Orphanet
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert list
    • Other
    • Expert Review Red
    • Emory Genetics Laboratory
    Phenotypes
    • ?Meckel syndrome 9, 614209
    • ciliopathies
    • Meckel syndrome
    • Joubert syndrome 27

    Red B9D1 in Skeletal ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.3
    Signed off v.1.2 on 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
    • Orphanet
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert list
    • Other
    • Expert Review Red
    • Emory Genetics Laboratory
    Phenotypes
    • ?Meckel syndrome 9, 614209
    • ciliopathies
    • Meckel syndrome
    • Joubert syndrome 27

    Red B9D1 in Kidneyome_SuperPanel_VCGS


    Level 2: Renal and urinary tract disorders
    Version 0.2

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • KidGen_CilioNephronop v38.1.0
    • Expert Review Red
    Phenotypes
    • Meckel syndrome 9, OMIM #614209
    • Joubert syndrome 27, OMIM #617120