1. Genes and Genomic Entities
  2. BMP4

BMP4

bone morphogenetic protein 4
OMIM: 112262, Gene2Phenotype

18 panels

Panel Reviews Mode of inheritance Details
18 panels
Red BMP4 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.47

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 1.37

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Microphthalmia, Syndromic 6, 607932
  • Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly
Amber BMP4 in Pituitary hormone deficiency


Level 2: Endocrinology
Version 4.4
Latest signed off version: v4.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center
Phenotypes
  • Microphthalmia, syndromic 6, OMIM:607932
Green BMP4 in Limb disorders


Level 2: Musculoskeletal
Version 7.17
Latest signed off version: v7.0 (30 Apr 2025)

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
    Green BMP4 in Stickler syndrome


    Level 2: Ophthalmology
    Version 4.5
    Latest signed off version: v4.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    • 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 1.124

    		review Not set
    Sources
    • Expert list
    • Expert Review Red
    Green BMP4 in Ocular coloboma

    Level 3: Ocular malformations
    Level 2: Ophthalmological disorders
    Version 1.51

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    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 1.181

    		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
    Green BMP4 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		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 Rare syndromic craniosynostosis or isolated multisuture synostosis


    Level 2: Musculoskeletal
    Version 6.3
    Latest signed off version: v6.0 (30 Apr 2025)

    		review Not set
    Sources
    • NHS GMS
    Phenotypes
    • orofacial cleft
    • Microphthalmia, syndromic type 6 607932
    Green BMP4 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    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 Monogenic hearing loss


    Level 2: Audiology
    Version 5.57
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review Not set
    Sources
    • Expert
    Red BMP4 in Clefting


    Level 2: Musculoskeletal
    Version 6.20
    Latest signed off version: v6.5 (30 Apr 2025)

    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 1.56

    		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 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  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 2: Ophthalmology
    Version 8.86
    Latest signed off version: v8.0 (30 Apr 2025)

    		review Not set
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Eye Disorders
    Green BMP4 in Structural eye disease


    Level 2: Ophthalmology
    Version 4.37
    Latest signed off version: v4.0 (7 Aug 2024)

    		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
    Red BMP4 in Unexplained young onset end-stage renal disease - additional genes


    Level 2: Renal
    Version 1.4
    Latest signed off version: v1.1 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease

    		•  review Unknown
    Sources
    • Expert Review Red
    Phenotypes
    • Microphthalmia, syndromic 6, OMIM:607932