All individuals with variants in gene BAP1

20 entries on 1 page. Showing entries 1 - 20.
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00245804 - PubMed: Schwartz 2019 - - - - - - - - - cancer, pancreatic Pancreatic ductal adenocarcinoma (PDAC) at age 80, and one first-degree relative with PDAC 1 1 Mathias Schwartz
00274652 - PubMed: Wu 2019 positive family history; maternal grandfather with malignant tumor (not clear); patient had brain, bone and pleural metastasis; patient deceased 63 months after diagnosis F ? China - - - - - RCC clear cell renal cell carcinoma (HP:0006770) 1 1 Rosemary Ekong
00307257 Patient 62 PubMed: Mendonca 2021 - M - Brazil - - - - - RB1 Unilateral 1 1 Vanessa Mendonça
00399524 Fam1Pat1 PubMed: Kury 2022 - F - - - - - - - NDD weight 36.2 (+1.5), height 128.5 (-1.5), OFC 51 (-1); no growth failure; developmental/intellectual delay; 18m-walk; speech delay, first words mildly delayed, good conversation; no hypotonia; seizures, 20m-three febrile seizures; MRI brain normal; behavioural anomalies, emotional, sensitive, attention disorder; sleeping disorder; no cardiac anomalies; no eye anomalies; no urogenital/kidney anomalies; normal hands; normal feet; no feeding difficulties; facial dysmorphism, short nose, anteverted nares 1 1 Johan den Dunnen
00399525 Fam2Pat2 PubMed: Kury 2022 - M - - - - - - - NDD weight 12.3 (-1.5), height 88.9 ( -1.5), OFC 47.9 (-2); no growth failure; developmental/intellectual delay; 19m-walk; speech delay, 1.5y-first words, delayed speech, deleting beginning/ending of words, difficult to understand; hypotonia; no seizures, 2y-one seizure like activity (eye rolling up only, no loss of consciousness), EEG 24h normal, MRI notmal normal at 3y and since then; 2y-MRI brain normal; behavioural anomalies, uncooperative, autistic features; bicuspid aortic valve; astigmatism; no urogenital/kidney anomalies; hands bilateral 3,4 fingers syndactyly; normal feet; sacral dimple; no feeding difficulties; facial dysmorphism, frontal bossing; absence of the depressor anguli muscle; recurrent episodes of otitis media/ear infection; required adenoidectomy and placement of two sets of ear tubes, which induced secondary bilateral mild conductive hearing loss 1 1 Johan den Dunnen
00399526 ?;Fam3Pat3 PubMed: Berger 2017, PubMed: Kury 2022 - F - - - - - - - NDD weight 48.6 (+0.5), height 149.4 (-2.5), OFC 56 (+1); growth failure; mild developmental/intellectual delay ; 18m-walk; speech delay, 3y-first words, speech delay; hypotonia; no seizures; behavioural anomalies, mild autism, attention deficit/hyperactivity disorder, Pervasive Developmental Disorder-Not Otherwise Specified (PDD-NOS), hyperactivity, tantrums, aggressive and impulsive actions, ‘lick and flip’, nail yanking, skin picking, self-hits, but no stereotypic behaviors; sleeping disorder; heart block; esotropia, strabismus; no urogenital/kidney anomalies; normal hands; normal feet; scoliosis; feeding difficulties; facial dysmorphism, coarse facial features with synophrys; frequent otitis media, precocious puberty, chronic constipation 1 1 Johan den Dunnen
00399527 Fam4Pat4 PubMed: Kury 2022 - M - - - - - - - NDD weight 20 (-0.99), height 109.7 (-2.44 ), OFC 54.7 (+1.67); growth failure; developmental/intellectual delay; 2y-walk; speech delay, >1y-first words, delayed speech development; 11m-IQ97; hypotonia, mild, improved with age; no seizures; behavioural anomalies, autism spectrum disorder; sleeping disorder; no cardiac anomalies; no eye anomalies; no urogenital/kidney anomalies; hands short tapering fingers, short distal phalanges, especially thumbs; normal feet; no feeding difficulties; facial dysmorphism, square shaped face, long philtrum; hypertrichosis of arms back, legs hepatomegaly, dry skin of fingers and feet 1 1 Johan den Dunnen
00399528 Fam5Pat5 PubMed: Kury 2022 - F - - - - - - - NDD weight 26.5 (-2), height 116 (-4.5), OFC 52 (-1); growth failure; severe developmental/intellectual delay ; not walking; speech delay, 3 y-first words, few words; hypotonia;; 3y-MRI brain normal; no cardiac anomalies; no eye anomalies; bilateral pyelectasis; normal hands; feet bilateral talipes equinovarus; scoliosis; facial dysmorphism, arched eyebrows; short nose; long philtrum; triangular mouth, arched eyebrows; short nose; long philtrum; triangular mouth; hypertrichosis 1 1 Johan den Dunnen
00399529 Fam6Pat6 PubMed: Kury 2022 - F - - - - - - - NDD weight 30 (-4.35), height 125.7 (-6), OFC 50 (-2.86); growth failure; severe developmental/intellectual delay ; not achieved walking; speech delay, not achieved first words, no speech; hypotonia; no seizures; 1y/2y/12y-MRI brain hypomyelination subcrotical white matter bilaterally in anterotemporal and subinsular areas, loss of white matter volume in the parieto-occipital areas with thin splenium, minimal volume loss vermis; behavioural anomalies, autism spectrum disorder; no cardiac anomalies; bilateral ptosis, hypermetropia, astigmatism.; no urogenital/kidney anomalies; hands brachdactyly, proximal implant of thumbs; feet bilateral talipes; short broad neck, thoraco-lumbal kyfosis, pterygyum, bilateral hip dysplasia; feeding difficulties; facial dysmorphism, short broad neck, thoraco-lumbal kyfosis, pterygyum, bilateral hip dysplasia; hypertrichosis 1 1 Johan den Dunnen
00399530 Fam7Pat7 PubMed: Kury 2022 - M - - - - - - - NDD weight 12.17 (+0.03), height 78 (-3.18), OFC 49 (+0.56); growth failure; developmental/intellectual delay; 17m-walk; speech delay, 10m-first words, 23m-speech 20-30 words; no hypotonia; no seizures; no behavioural anomalies; normal hands; normal feet; facial dysmorphism, relative macrocephaly, slightly coarse features, downslanting palpebral fissures, low-set and posteriorly roated ears, short neck; cystic hygroma and enlarged fetal kidneys with polyhydramnios prenatally, recurrent otitis media, constipation 1 1 Johan den Dunnen
00399531 Fam8Pat8 PubMed: Kury 2022 - F - - - - - - - NDD weight 13.7 (-1.28), height 90 (-2.71), OFC 50 (-0.01); growth failure; developmental/intellectual delay; 2.5y-walk; speech delay, 1y-first words, speech 4y-15 words, mostly communicates by whining or pointing; hypotonia very mildly low tone in extremities; 3m/13m/2y6m-MRI brain stable non-enhancing pineal gland cyst (benign); behavioural anomalies, sensitivity to food textures and sensory input; behavioral problems due to communication difficulties; no cardiac anomalies; exudative vitreoretinopathy, high myopia; no urogenital/kidney anomalies; normal hands; normal feet; feeding difficulties; facial dysmorphism, brachycephaly, square-shaped face, appears hyperteloric, simple ears with underfolding of helices, deep set eyes, wide spaced teeth, upturned nasal tip, long smooth philtrum; tracheomalacia at birth, very mild obstructive sleep apnea and periodic limb movement disorder, tooth abnormality (twin central incisor and large pulp chambers), pilomatricoma of the right temple 1 1 Johan den Dunnen
00399532 Fam9Pat9 PubMed: Kury 2022 - M - - - - - - - NDD weight 50 (-1.17), height 142 (-3.69), OFC 53 (-1.41 ); growth failure; developmental/intellectual delay; 2y-walk; speech delay, delayed first words, simple conversation; no hypotonia; seizure, 14y- tegretol treatment; 14y-MRI brain "empty sella"; behavioural anomalies, sensitive, difficulty with changes, treated with Risperdal; no cardiac anomalies; no eye anomalies; no urogenital/kidney anomalies; hands bilateral 3,4 fingers syndactyly; feet repair left vertical talus, wide big toes; scattered nevi; no feeding difficulties; facial dysmorphism, patchy alopecia almost complete from age 3 years - black hair, no eyebrows. Weakness left mouth angle, "scrotal tongue" with midline indentation, high arched palate, protruding auricles; hearing loss- perforation of eardrums, 22y-wearing hearing aids; alopecia 1 1 Johan den Dunnen
00399533 Fam10Pat10 PubMed: Kury 2022 - F - - - - - - - NDD weight 30 (+1), height 117.4 (-2), OFC 48 (+0 at 27m); growth failure; developmental/intellectual delay; 23m-walk; speech delay, 26m-first words, speech in sentences but difficult to understand because of articulation errors, can be jumbled together, especially when excited or tired; hypotonia; seizures, 5y-last seizure; 1m/9m/2y-MRI brain normal, mild prominence of ventricles and sulci;improved dilation of cortical sulci; social difficulties, meltdowns, sensory processing difficulties; ventricular septal defect, now closed; mild myopia, left exotropia; early VUR, left hydronephrosis; normal hands; normal feet; hyperlaxity; feeding difficulties; facial dysmorphism, mild wide-spacing of eyes, protruding ears, teneted upper lip 1 1 Johan den Dunnen
00399534 Fam11Pat11 PubMed: Kury 2022 - F - - - - - - - NDD weight 26 (-2.5), height 135.3 (-2), OFC 54.5 (+1); growth failure; developmental/intellectual delay; 15m-walk; speech delay, 1y-first words, delayed speech and language; no hypotonia; no seizures; 4m-MRI brain evidence of sinus disease and possible subtle asymmetry hippocampi; behavioural anomalies, attention deficit hyperactivity disorder, dyslexia; pain insensitivity; no cardiac anomalies; no eye anomalies; no urogenital/kidney anomalies; normal hands; normal feet 1 1 Johan den Dunnen
00415759 - Sheth, unpublished - M - India - - - - - cancer, colon family history Bethesda; Moderately differentiated adenocarcinoma with abudant extracellular mucin+signet ring cells of Descending colon and Spenic flexure; 1 1 Harsh Sheth
00444507 Pat9 PubMed: Riquin 2023 patient F - France - - - - - NDD Axial hypotonia, facial dysmorphism, severe global developmental delay predominantly on language, nystagmus 1 1 Johan den Dunnen
00449813 - - - M - - (not applicable) white - - - - ID HP:0002342, HP:0000729, HP:0000733, HP:0000271 1 1 Marketa Wayhelova
00460897 - - - - - Netherlands - - - - - ? - 1 1 Tjakko van Ham
00460905 - - - - - Netherlands - - - - - ? - 1 1 Tjakko van Ham
00465592 329845 - - M no Germany - - - - - KURIS Neurodevelopmental delay, Polycythemia, Hearing impairment, Lymphangioma 1 1 Andreas Laner
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