Bilateral microtia

Gene: BMP4

Red List (low evidence)

BMP4 (bone morphogenetic protein 4)
EnsemblGeneIds (GRCh38): ENSG00000125378
EnsemblGeneIds (GRCh37): ENSG00000125378
OMIM: 112262, Gene2Phenotype
BMP4 is in 19 panels

2 reviews

Jun Shen (Harvard Medical School)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

#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]


Maria Bitner-Glindzicz (UCL)

Red List (low evidence)

History Filter Activity

4 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Apr 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

BMP4 was added to Bilateral Microtiapanel. Sources: Expert list