Deafness and congenital structural abnormalities
Gene: TFAP2AComment on list classification: Green gene on the Familial hemifacial microsomia (Version 0.148) gene panel which was combined to create this panel.Created: 14 Oct 2016, 1:41 p.m.
Comment on list classification: Red on the Bilateral Microtia Version 1.10 panel.Created: 12 Sep 2016, 3:02 p.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P / DD. Seven variants reported.Created: 8 Sep 2016, 11:11 a.m.
Comment on list classification: Expert review, sufficient variants reportedCreated: 8 Sep 2016, 11:10 a.m.
OMIM 113620: Branchiooculofacial syndrome
Branchiooculofacial syndrome (BOFS) is characterized by branchial cleft sinus defects, ocular anomalies such as microphthalmia and lacrimal duct obstruction, a dysmorphic facial appearance including cleft or pseudocleft lip/palate, and autosomal dominant inheritance. Although anomalies of the external and middle ear frequently cause conductive hearing loss in BOFS, severe to profound sensorineural hearing loss due to inner ear anomalies has rarely been reportedCreated: 1 Aug 2016, 11:36 a.m.
OMIM 113620: Branchiooculofacial syndrome
Branchiooculofacial syndrome (BOFS) is characterized by branchial cleft sinus defects, ocular anomalies such as microphthalmia and lacrimal duct obstruction, a dysmorphic facial appearance including cleft or pseudocleft lip/palate, and autosomal dominant inheritance. Although anomalies of the external and middle ear frequently cause conductive hearing loss in BOFS, severe to profound sensorineural hearing loss due to inner ear anomalies has rarely been reportedCreated: 1 Aug 2016, 11:33 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
External and middle ear anomalies; branchial cleft sinus defects; ocular anomalies
Publications
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
#113620:Branchiooculofacial syndrome [Prenatal growth deficiency (27%); Postnatal growth deficiency (50%); Microcephaly; Micrognathia; Small forehead; Low-set ears; Posteriorly rotated ears; Hypoplastic superior helix; Microtia; Posterior auricular pit; Preauricular pit; Overfolded ears; Supraauricular sinuses; Conductive hearing loss; Lacrimal sac fistula; Orbital dermoid cyst; Iris pigment epithelial cyst; Combined hamartoma of the retina and retinal pigment epithelium; Upslanting palpebral fissures; Telecanthus; Hypertelorism; Ptosis; Lacrimal duct obstruction; Iris coloboma; Retinal coloboma; Microphthalmia; Anophthalmia; Myopia; Cataract; Strabismus; Broad nasal tip; Divided nasal tip; Depressed nasal bridge; Short nasal septum; Pseudocleft; Incomplete/complete cleft lip; Cleft palate; Lip pits; Dental abnormalities; Branchial anomalies; Widely spaced nipples; Supernumerary nipples; Renal agenesis; Cystic kidney; Malar hypoplasia; Mastoid hypoplasia with absence of air cells; Fusion of middle ear ossicles; Kyphosis; Lordosis; Polydactyly; Clinodactyly; Single transverse palmar crease; Hypoplastic thumbs; Aplasia cutis congenita; Subcutaneous scalp cysts; Hemangiomatous branchial clefts (extend along sternocleidomastoid muscle); Single transverse palmar crease; Hypoplastic fingernails; Premature graying of hair; Mild mental retardation; Agenesis of cerebellar vermis; Hypernasal speech; Ectopic thymus]
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).
Publications for TFAP2A were set to 9761567; 10071194; 15734008; 1619642; 19685247; 6829601; 2354548;10507730; 10767004; 11406275; 12843180; 15930016; 1619642; 18423521; 1916817; 19206157; 19685247; 20150232; 20358615; 23382213; 24097348; 3040262; 3063603; 7747785; 8190633; 8321221; 8622765; 8622766; 8661133; 8824807
Phenotypes for TFAP2A were set to Bilateral Microtia; Branchiooculofacial syndrome 113620;External and middle ear anomalies; branchial cleft sinus defects; ocular anomalies
This gene has been classified as Green List (High Evidence).
TFAP2A was added to Deafness and congenital structural abnormalitiespanel. Source: Expert Review Green
TFAP2A was added to Deafness and congenital structural abnormalitiespanel. Source: Radboud University Medical Center, Nijmegen Model of inheritance for gene TFAP2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
TFAP2A was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Expert Review Red
TFAP2A was created by sleigh