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Hearing loss

Gene: BMP4

Red List (low evidence)

BMP4 (bone morphogenetic protein 4)
EnsemblGeneIds (GRCh38): ENSG00000125378
EnsemblGeneIds (GRCh37): ENSG00000125378
OMIM: 112262, Gene2Phenotype
BMP4 is in 21 panels

2 reviews

Maria Bitner-Glindzicz (UCL)

Red List (low evidence)

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

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

BMP4 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert