BMP4

Red BMP4 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.45

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 1.22

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

Amber BMP4 in Pituitary hormone deficiency

Version 3.11
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Amber
• Illumina TruGenome Clinical Sequencing Services
• Radboud University Medical Center

Phenotypes

• Microphthalmia, syndromic 6, OMIM:607932

Green BMP4 in Limb disorders

Version 4.18
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green
• Victorian Clinical Genetics Services

Phenotypes

• Polydactyly
• Microphthalmia, syndromic 6 607932

Green BMP4 in Stickler syndrome

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.4
Latest signed off version: v4.0 (22 Mar 2023)

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 1.118

Component of the following Super Panels:

Sources

• Expert list
• Expert Review Red

Green BMP4 in Ocular coloboma

Level 3: Ocular malformations
Level 2: Ophthalmological disorders
Version 1.47

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 1.175

Component of the following Super Panels:

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 young onset end-stage renal disease

Version 3.40
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Red

Green BMP4 in Fetal anomalies

Version 3.155
Latest signed off version: v3.0 (22 Mar 2023)

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 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 4.179
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• NHS GMS

Phenotypes

• orofacial cleft
• Microphthalmia, syndromic type 6 607932

Green BMP4 in DDG2P

Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• MICROPHTHALMIA, SYNDROMIC 6 607932
• OROFACIAL CLEFT 11 600625

Red BMP4 in Monogenic hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.38
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert

Red BMP4 in Clefting

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.108
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

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 1.51

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 - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.532
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

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 4.89
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• NHS GMS
• Expert Review Red

Phenotypes

• Eye Disorders

Green BMP4 in Structural eye disease

Version 3.77
Latest signed off version: v3.0 (22 Mar 2023)

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 1.184

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• Microphthalmia, syndromic 6, 607932
• Orofacial cleft 11, 600625