Deafness and congenital structural abnormalities
Gene: BMP4EnsemblGeneIds (GRCh38): ENSG00000125378
EnsemblGeneIds (GRCh37): ENSG00000125378
OMIM: 112262, Gene2Phenotype
BMP4 is in 18 panels
5 reviews
Richard Scott (Genomics England Curator)
Comment on list classification: Is causative of structural ear anomalies and deafness PMID 18252212Created: 25 Oct 2016, 4:14 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
607932
Publications
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and G2P / DD. At least six variants reported.Created: 14 Sep 2016, 8:28 a.m.
Comment on phenotypes: Variants also reported in Orofacial cleft 11, 600625Created: 14 Sep 2016, 8:24 a.m.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Green on the Familial hemifacial microsomia (Version 0.148) gene panels which was combined to create this panel due to high level of evidence for Microphthalmia, Syndromic 6, 607932.
Created: 14 Oct 2016, 1:04 p.m.
Comment on list classification: Red on the Bilateral Microtia Version 1.10 panel.Created: 12 Sep 2016, 2:52 p.m.
Jun Shen (Harvard Medical School)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
#600625:Orofacial cleft 11 [Congenital ' healed' cleft lip (CHCL); Paramedian upper lip ' scar' Ipsilateral notch of vermilion border; Collapsed nostril; Most often in males; Preferentially left sided]; #607932:Microphthalmia, syndromic 6 [Plagiocephaly; Brachycephaly; High forehead; Midface hypoplasia; Facial asymmetry; Retrognathia; Micrognathia; Large ears; Flat ears; Posteriorly rotated ears; Low-set ears; Fleshy ears; Angular ears; Small triangular pinnae; Small external auditory canals; Uplifted earlobes; Anophthalmia, true; Anophthalmia, clinical; Microphthalmia; Small tongue; High-arched palate; Cleft palate; Bifid uvula; Micropenis; Small scrotum; Bifid scrotum; Hypoplastic foreskin; Hypospadias; Underdeveloped genitalia; Cryptorchidism; Absent uterine horn; Hypoplastic kidneys; Hypoplastic adrenal glands; Craniosynostosis, lambdoid; Cervical vertebral anomalies; Single palmar crease; Clinodactyly; Short middle phalanges; Flexion of thumbs; Preaxial polydactyly; Syndactyly; Brachydactyly; Syndactyly; Hypotonia, severe; Cortical atrophy; Small cerebellum; Absent optic nerves, chiasm, and tracts; Psychomotor retardation; Hypopituitarism; Pituitary anomalies; Hypothyroidism, secondary]
Publications
- PMID:10603340
- 10999829
- 11336702
- 12379229
- 12552124
- 12925636
- 12975322
- 14960358
- 15017003
- 15210946
- 15466378
- 15716346
- 16916928
- 17151667
- 17325163
- 17425602
- 17696121
- 18202659
- 18252212
- 18701888
- 19229034
- 19249007
- 19556507
- 1970330
- 19759357
- 21340693
- 7558046
- 8339498
- 8645259
- 8678932
- 8678940
- 9701626
- 9804553
- 9851982
Maria Bitner-Glindzicz (UCL)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- UKGTN
- Expert list
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Microphthalmia, Syndromic 6, 607932
- Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly
- OMIM
- 112262
- Clinvar variants
- Variants in BMP4
- Penetrance
- Complete
- Panels with this gene
-
- Deafness and congenital structural abnormalities
- Unexplained kidney failure in young people
- Limb disorders
- DDG2P
- Ocular coloboma
- Intellectual disability
- Stickler syndrome
- Clefting
- Retinal disorders
- Unexplained young onset end-stage renal disease - additional genes
- Structural eye disease
- Monogenic hearing loss
- Fetal anomalies
- Pituitary hormone deficiency
- Glaucoma (developmental)
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Anophthalmia or microphthalmia
- CAKUT
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)26th Oct 2016: the panels Bilateral microtia version 1.10, Ear malformations with hearing impairment version 0.105, and familial hemifacial microsomia version 0.149 gene panels were combined to create this panel. The panel was revised due to expert review, further curation of evidence and internal clinical evaluation. Ready for promotion to version 1.
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for BMP4 were set to Microphthalmia, Syndromic 6, 607932; Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Ellen McDonagh (Genomics England Curator)BMP4 was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
clearsources
Ellen McDonagh (Genomics England Curator)BMP4All sources for gene: BMP4 were removed
Set Mode of Inheritance, Added New Source
Sarah Leigh (Genomics England Curator)BMP4 was added to Deafness and congenital structural abnormalitiespanel. Source: Expert Review Green Model of inheritance for gene BMP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Mode of Inheritance, Added New Source
Sarah Leigh (Genomics England Curator)BMP4 was added to Deafness and congenital structural abnormalitiespanel. Source: UKGTN BMP4 was added to Deafness and congenital structural abnormalitiespanel. Source: Emory Genetics Laboratory BMP4 was added to Deafness and congenital structural abnormalitiespanel. Source: Radboud University Medical Center, Nijmegen BMP4 was added to Deafness and congenital structural abnormalitiespanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene BMP4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Created
Sarah Leigh (Genomics England Curator)BMP4 was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)BMP4 was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Expert Review Red