Individual #00016950

ID_report -
Reference PubMed: Meshcheryakova 2015, Journal: Meshcheryakova 2015
Remarks probably mosaicism in mother with light signs of BOFS (parotid fistula)
Gender M
Consanguinity no
Country Russian Federation
Population Russian
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases BOFS
Owner name Andrey Marakhonov


Phenotypes

branchiooculofacial syndrome (BOFS) (BOFS)   Add phenotype for this disease

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Owner     
0000016182 born 39w pregnancy, birth weight 2250g, birth height 49cm; 7m-hospitalisedfor surgical treatment bilateral lip/palate cleft; dolichocephaly, elongated face, ellipsoidal eye shape, areas of bilateral linear aplasia skin neck, strabismus; right nasolacrimal canal stenosis, retinal coloboma; otoscopy shows dilatation external auditory canal and right internal auditory canal, hyperplasia auditory ossicles, bilateral conductive hearing loss; normal psychomotor/intellectual developmentnormal; no congenital heart defects or abnormalities urinary system (ultrasound investigation, echocardiography) - - Isolated (sporadic) - - - - - Andrey Marakhonov



Screenings


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Owner     
0000016927 DNA SEQ blood - TFAP2A 1 Andrey Marakhonov



Variants

1 entry on 1 page. Showing entry 1.
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Protein level     
6 Maternal (inferred) +?/. g.10404742T>C g.10404509T>C NM_00104242:c.751A>G (R251G) - TFAP2A_000002 ClinVar-17937; probable mosaicism in mother with light signs of BOFS PubMed: Meshcheryakova 2015, Journal: Meshcheryakova 2015, ClinVar-SCV000223994 - rs121909574 Germline yes - - 0 - Andrey Marakhonov TFAP2A - - - - - 4 NM_003220.2:c.763A>G - - r.(?) p.(Arg255Gly) - - - - - - - - - - - - - - - - - - -
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