BMP4

bone morphogenetic protein 4
OMIM: 112262, Gene2Phenotype

19 panels

Panel Reviews Mode of inheritance Details
19 panels

Red BMP4 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.42

review Not set
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders

Green BMP4 in Deafness and congenital structural abnormalities

Level 3: Deafness and congenital structural abnormalities
Level 2: Hearing and ear disorders
Version 1.19

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Microphthalmia, Syndromic 6, 607932
  • Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly

Red BMP4 in Pituitary hormone deficiency


Version 2.13
Latest signed off version: v2.2 (3 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center
Phenotypes
  • Microphthalmia, syndromic 6 (607932)

Green BMP4 in Limb disorders


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

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Polydactyly
    • Microphthalmia, syndromic 6 607932

    Amber BMP4 in Stickler syndrome

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.27
    Latest signed off version: v2.2 (19 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Stickler syndrome, MONDO:0019354

    Red BMP4 in Unexplained kidney failure in young people

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 1.113

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review Not set
    Sources
    • Expert list
    • Expert Review Red

    Green BMP4 in Ocular coloboma

    Level 3: Ocular malformations
    Level 2: Ophthalmological disorders
    Version 1.46

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • UKGTN
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Microphthalmia, syndromic 6, 607932

    Amber BMP4 in CAKUT

    Level 3: Structural renal and urinary tract disease
    Level 2: Renal and urinary tract disorders
    Version 1.169

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • CAKUT
    • renal maldevelopment
    • congenital renal dysplasia
    • Congenital Anomaly of the Kidneys and Urinary Tract

    Red BMP4 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 Unknown
    Sources
    • Expert Review Red

    Green BMP4 in Fetal anomalies


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

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MICROPHTHALMIA, SYNDROMIC 6
    • OROFACIAL CLEFT 11

    Red BMP4 in Craniosynostosis

    Level 3: Craniosynostosis syndromes
    Level 2: Skeletal disorders
    Version 2.76
    Latest signed off version: v2.2 (13 Feb 2020)

    review Not set
    Sources
    • NHS GMS
    Phenotypes
    • orofacial cleft
    • Microphthalmia, syndromic type 6 607932

    Green BMP4 in DDG2P


    Version 2.76
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MICROPHTHALMIA, SYNDROMIC 6 607932
    • OROFACIAL CLEFT 11 600625

    Red BMP4 in Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.247
    Latest signed off version: v2.5 (13 Feb 2020)

    review Not set
    Sources
    • Expert

    Red BMP4 in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.70
    Latest signed off version: v2.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Red
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Orofacial cleft 11, 600625
    • Cleft Lip with or without Cleft Palate
    • Orofacial Cleft
    • Cleft lip with or without cleft palate, non syndromic, 11
    • MICROPHTHALMIA, SYNDROMIC 6
    • MCOPS6, OROFACIAL CLEFT 11
    • OFC11
    • Cleft lip

    Green BMP4 in Anophthalmia or microphthalmia

    Level 3: Ocular malformations
    Level 2: Ophthalmological disorders
    Version 1.45

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    Phenotypes
    • BMP4-Related Syndromic Microphthalmia
    • Microphthalmia, syndromic 6, 607932Orofacial cleft 11, 600625

    Green BMP4 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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert Review Green
    • BRIDGE study SPEED NEURO Tier1 Gene
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Microphthalmia, syndromic 6 607932
    • Global developmental delay

    Red BMP4 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.285
    Latest signed off version: v2.195 (5 Aug 2021)

    review Not set
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Eye Disorders

    Green BMP4 in Structural eye disease


    Version 1.132
    Latest signed off version: v1.3 (4 Mar 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Orofacial cleft 11, 600625
    • Microphthalmia, syndromic 6, 607932
    • BMP4-Related Syndromic Microphthalmia

    Green BMP4 in Severe Paediatric Disorders


    Version 1.127

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Microphthalmia, syndromic 6, 607932
    • Orofacial cleft 11, 600625