Bilateral microtia
Gene: BMP4EnsemblGeneIds (GRCh38): ENSG00000125378
EnsemblGeneIds (GRCh37): ENSG00000125378
OMIM: 112262, Gene2Phenotype
BMP4 is in 18 panels
2 reviews
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
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- Bilateral Microtia
- OMIM
- 112262
- Clinvar variants
- Variants in BMP4
- Penetrance
- Complete
- Panels with this gene
-
- CAKUT
- Monogenic hearing loss
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Deafness and congenital structural abnormalities
- Clefting
- Ocular coloboma
- Limb disorders
- Structural eye disease
- Stickler syndrome
- Retinal disorders
- Unexplained kidney failure in young people
- Intellectual disability
- Unexplained young onset end-stage renal disease - additional genes
- Fetal anomalies
- DDG2P
- Pituitary hormone deficiency
- Glaucoma (developmental)
- Anophthalmia or microphthalmia
History Filter Activity
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)BMP4 was added to Bilateral Microtiapanel. Sources: Expert list