PanelApp (test)
  1. Genes and Genomic Entities
  2. BMP4

BMP4

bone morphogenetic protein 4
OMIM: 112262, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green BMP4 in Anophthalmia_Microphthalmia_Coloboma


Level 2: Ophthalmological disorders
Version 1.39

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microphthalmia, syndromic 6, MIM# 607932

Green BMP4 in Eye Anterior Segment Abnormalities


Level 2: Ophthalmological disorders
Version 1.12

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microphthalmia, syndromic 6, MIM# 607932
  • Anterior segment dysgenesis
  • Peter's anomaly

Green BMP4 in Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic


Level 2: Renal and urinary tract disorders
Version 0.138

Component of the following Super Panels:

  • Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel
  • Kidneyome_SuperPanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • CAKUT

    Green BMP4 in Mendeliome


    Version 1.1902

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Orofacial cleft 11 600625
    • Microphthalmia, syndromic 6, MIM# 607932

    Green BMP4 in Polydactyly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.276

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green BMP4 in Pierre Robin Sequence


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.47

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green BMP4 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.522

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green BMP4 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Microphthalmia, syndromic 6, MIM# 607932

    Red BMP4 in Pituitary hormone deficiency


    Level 2: Endocrine disorders
    Version 0.34

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Microphthalmia, syndromic 6 (607932)

    Green BMP4 in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.252

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Orofacial cleft 11 600625
    • Microphthalmia, syndromic 6, MIM# 607932

    Green BMP4 in Fetal anomalies


    Version 1.255

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Orofacial cleft 11 600625
    • Microphthalmia, syndromic 6, MIM# 607932
    Tags
    • SV/CNV