All individuals with variants in gene TFAP2A

15 entries on 1 page. Showing entries 1 - 15.
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00016944 - PubMed: Meshcheryakova 2015, Journal: Meshcheryakova 2015 2-generation family, affected mother/child F no Russian Federation Russian - - - - BOFS born 39w pregnancy; 10m-areas of linear aplasia skin neck, bilateral stenosis nasolacrimal canal with dystopia lacrimal points upper lip, pseudocleft upper lip; hair growth neck, parotid branchial fistulas, cysts neck. Mother 29y-areas linear aplasia skin neck, nasolacrimal canal stenosis, coloboma optic nerve, strabismus, right-sided conductive hearing loss, premature poliosis hair; upper lip cleft operated in childhood; first pregnancy terminated 22w estation medical reasons (multiple congenital malformations (bilateral cleft lip/palate, microphthalmia during ultrasound female foetus confirmed by autopsy, chromosomal aberrations excluded on cytogenetic studies foetal blood lymphocytes) 1 2 Andrey Marakhonov
00016950 - PubMed: Meshcheryakova 2015, Journal: Meshcheryakova 2015 probably mosaicism in mother with light signs of BOFS (parotid fistula) M no Russian Federation Russian - - - - BOFS 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) 1 1 Andrey Marakhonov
00016951 - PubMed: Meshcheryakova 2015, Journal: Meshcheryakova 2015 2-generation family, unaffected parents not carrying the variant F no Russian Federation Russian - - - - BOFS born 38w pregnancy, birth weight 3100g; facial dysmorphism: bilateral upper lip cleft, dimples upper lip, low-set ears, parotid fistula, microgenia, branchial cysts neck, hair growth neck, ellipsoidal eye shape; first months frequent apnoeic spells and complicating respiratory failure resulting in superimposed tracheostomy tube; 8y-coloboma optic nerve, CT scan temporal bone right external auditory canal atresia 1 1 Andrey Marakhonov
00029025 - PubMed: Milunsky 2008 - F - United States - - - - - BOFS see paper; .. 1 1 Johan den Dunnen
00029026 - PubMed: Milunsky 2008 - M - United States - - - - - BOFS see paper; .. 1 1 Johan den Dunnen
00029027 - PubMed: Milunsky 2008 - M - United States - - - - - BOFS see paper; .. 1 1 Johan den Dunnen
00029028 - PubMed: Milunsky 2008 - F - United States - - - - - BOFS seep paper; .. 1 1 Johan den Dunnen
00029029 - PubMed: Milunsky 2008 2-generation family, affected mother/son - - United States - - - - - BOFS see paper; ... ; neither mother/son had overt cleft lip and palate; son has abnormally short philtrum and bilateral notched vermilion-mucosa border 1 2 Johan den Dunnen
00299444 - - - ? - - - - - - - ? Abnormality of the placenta (HP:0100767); Hernia (HP:0100790); Intrauterine growth retardation (HP:0001511); Tetralogy of Fallot (HP:0001636); Hypospadias (HP:0000047) 1 1 Andreas Laner
00374124 - PubMed: Lefebvre 2021 fetus M - France - - - - - ? 28w-fetus, ultrasound small for gestational age, cleft palate; autopsy Severe intrauterine growth retardation, short neck, facial dysmorphism, right labial cleft and cleft palate 1 1 Johan den Dunnen
00390066 Pat13 PubMed: Kritioti 2021 - M - Cyprus Greece - - - - ? global developmental delay, intellectual disability, camptodactyly, upslanting palpebral fissures, microstomia, coloboma, sparse hair 1 1 Johan den Dunnen
00434238 Fam23756 PubMed: Jackson 2020 - - - - white - - - - ? - 1 1 Johan den Dunnen
00444374 SG130194 PubMed: Aubert-Mucca 2021 3-generation family, affected girl/mother/maternal grandfather F - France - - - - - OCCO see paper; ..., microphthalmia; bilateral optic disc coloboma with unilateral microphthalmia 1 3 Johan den Dunnen
00448160 Pat15 PubMed: Shepherdson 2024, Journal: Shepherdson 2024 2-generation family, 1 affected M - United Kingdom (Great Britain) white - - - - NDD see paper; ..., birth 36w Ceasarean section (poor movement); bilateral SNHL (aids-->cochlear implants); optic nerve damage initially throught to be from intracerebral haemorrhage (5y), wears spectacles, 10y-further dterioration with optic atrophy; developmental motor delay; 2y-walk; poor fine motor difficulties, SARA score of 11 (mild incoordination); developmental delay language; 2y-first words; 9y-10-speak in sentences, still limited; Autistic traits; no ADHD; no sleep abnormalities; special education; nephrocalcinosis; 4y/11y-MRI brain macrocephaly, bilateral subdural hygroma resolution, slim corpus callosum, generalized lack of white matter, multiple enlarged perivascular spaces, mega cisterna magna;  ; no parathyroid adenoma; no sarcoma; hypotonia; seizures as baby, now occasional abscences; dysmorphic features; downslanting palpebral fissures; depressed nasal bridge; frontal bossing ; high arched palate; macrocepahly; hypospadias; inguinal hernia; tapering fingers 1 1 Johan den Dunnen
00469454 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
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