Deafness and congenital structural abnormalities
Gene: BMP4
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
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.
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.
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
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.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for BMP4 were set to Microphthalmia, Syndromic 6, 607932; Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly
This gene has been classified as Green List (High Evidence).
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
BMP4All sources for gene: BMP4 were removed
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
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
BMP4 was created by sleigh
BMP4 was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Expert Review Red