Monogenic hearing loss
Gene: BMP4EnsemblGeneIds (GRCh38): ENSG00000125378
EnsemblGeneIds (GRCh37): ENSG00000125378
OMIM: 112262, Gene2Phenotype
BMP4 is in 18 panels
2 reviews
Maria Bitner-Glindzicz (UCL)
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[PlagiocephalyBrachycephaly; High foreheadMidface hypoplasiaFacial asymmetryRetrognathiaMicrognathia; Large earsFlat earsPosteriorly rotated earsLow-set earsFleshy earsAngular earsSmall triangular pinnaeSmall external auditory canalsUplifted earlobes; Anophthalmia, trueAnophthalmia, clinicalMicrophthalmia; Small tongueHigh-arched palateCleft palateBifid uvula; MicropenisSmall scrotumBifid scrotumHypoplastic foreskinHypospadias; Underdeveloped genitalia; Cryptorchidism; Absent uterine horn; Hypoplastic kidneysHypoplastic adrenal glands; Craniosynostosis, lambdoid; Cervical vertebral anomalies; Single palmar creaseClinodactylyShort middle phalangesFlexion of thumbsPreaxial polydactylySyndactylyBrachydactyly; Syndactyly; Hypotonia, severeCortical atrophySmall cerebellumAbsent optic nerves, chiasm, and tractsPsychomotor retardation; HypopituitarismPituitary anomaliesHypothyroidism, secondary; Caused by mutation in the bone morphogenetic protein 4 (BMP4,)]
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
Details
- Sources
-
- Expert
- OMIM
- 112262
- Clinvar variants
- Variants in BMP4
- Penetrance
- Complete
- Panels with this gene
-
- Limb disorders
- Deafness and congenital structural abnormalities
- Unexplained kidney failure in young people
- Retinal disorders
- DDG2P
- Ocular coloboma
- Clefting
- Stickler syndrome
- 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
- Intellectual disability
- CAKUT
History Filter Activity
Added New Source
Ellen McDonagh (Genomics England Curator)BMP4 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert