All individuals with variants in gene HUWE1

49 entries on 1 page. Showing entries 1 - 49.
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00000014 - PubMed: Bell 2011 - - - - - - - - - autism, BMD/DMD - 1 1 Global Variome, with Curator vacancy
00000024 - PubMed: Bell 2011 - - - - - - - - - BMD/DMD - 1 1 Global Variome, with Curator vacancy
00000039 - PubMed: Bell 2011 - - - - - - - - - ADPKD - 1 1 Global Variome, with Curator vacancy
00000041 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000042 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000049 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000075 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00050558 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected and affected2nd degree relatives M - United Kingdom (Great Britain) - - - Decipher - ? obsessive-compulsive trait, global developmental delay, delayed speech and language development, echolalia, frontal upsweep of hair, upslanted palpebral fissure, sparse lateral eyebrow 1 1 Johan den Dunnen
00050593 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? abnormal facial shape, severe postnatal growth retardation, growth delay, intrauterine growth retardation, microcephaly, flat occiput, generalized neonatal hypotonia, global developmental delay, overlapping toe, prominent epicanthal folds, delayed ossification of carpal bones 1 1 Johan den Dunnen
00050664 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected mother/child M - United Kingdom (Great Britain) - - - Decipher - ? delayed speech and language development, abnormal facial shape, microcephaly, intrauterine growth retardation, global developmental delay, clinodactyly of the 5th finger, persistence of primary teeth, nasal speech, brachydactyly syndrome 1 2 Johan den Dunnen
00079118 - PubMed: Taylor 2015 - M no - Middle East - - - - CRS Flat mid-face, down-slanting palpebral fissures, low set ears, facial asymmetry, retracted pre-maxilla, right choanal stenosis, micrognathia, peg-like teeth with conical incisors, absent lateral incisors, pectus excavatum, scoliosis, long palms, slight digital shortening, mild 4/5 syndactyly of toes, Chiari malformation, moderate - severe learning difficulties. 1 1 Kerry Miller
00079119 - PubMed: Taylor 2015 - F no - white - - - - CRS Learning difficulties 1 1 Kerry Miller
00081376 - Kay, submitted EJHG - - - Peru - - - - - HD - 1 1 Chris Kay
00081379 - Kay, submitted EJHG - - - Peru - - - - - HD - 1 1 Chris Kay
00104571 - - - M no Czech Republic white - - - - MRXST severe intellectual disability, growth retardation, microcephaly, hypotonia 1 1 Jana Paderova
00172919 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 2 Lucy Raymond
00172920 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 3 Lucy Raymond
00172921 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00172922 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 97 Lucy Raymond
00172923 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00172924 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00172925 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 2 Lucy Raymond
00183105 25644381-FamT137 PubMed: Hu 2016 family, 2 affected, 2 unaffected heterozygous carrier females M - - - - - - - MRX;IDX - 1 2 Johan den Dunnen
00183106 25644381-FamD154 PubMed: Hu 2016 family, 3 affected, 7 unaffected heterozygous carrier females M - - - - - - - MRX;IDX - 1 3 Johan den Dunnen
00183153 25644381-FamL1005 PubMed: Hu 2016 family, 2 affected, 1 unaffected heterozygous carrier female M - - - - - - - MRX;IDX - 1 2 Johan den Dunnen
00183154 25644381-FamD205 PubMed: Hu 2016 family, 1 affected M - - - - - - - MRX;IDX - 1 1 Johan den Dunnen
00289404 Pat22 PubMed: Barbosa 2020 - M - - - - - - - NDD first smile 21m; sit not achieved, walk not achieved; no speech; severe learning difficulties; language delay no language development; language delay; OFC -4.6 SD 1 1 Johan den Dunnen
00295077 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00305314 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00311388 Pat6 PubMed: Granadillo 2020 2-generation family, affected mother/son M - - - - - - - NDD birth weight normal, length normal; normal height, normal weight, OFC 2.7; developmental delay/intellectual disability, IQ97; gross motor delay, fine motor delay; speech delay; autism, attention deficit hyperactivity disorder, oppositional defiant disorder; hypotonia; sleep problems; no hearing loss; normal vision; small joint hypermobility; strawberry hemangioma on right knee (now resolved); mild facial asymmetry, normal forehead, slightly downslanting palpebral fissures, normal ears, normal nose, normal mouth; no gastrointestinal problems; MRI brain normal; ECG normal; mother, maternal aunt and maternal grandmother have short stature, ophthalmoplegia, diabetes, sensorineural hearing loss, learning problems, mother has seizures, maternal aternal uncle with hydrocephalus, sister with ID and hypotonia, paternal half-sister with ADHD 1 2 Johan den Dunnen
00314906 Trio99 PubMed: Zhu 2015 - M - United States - - - - - ? Global developmental delay, seizures, right coronal craniosynostosis, strabismus, hearing loss, Chiari I malformation, strong paternal family history of colon cancer. 1 1 Johan den Dunnen
00380425 167725 - - M no Germany - - - - - MRXST Cryptorchidism, Abnormal testis morphology, Abnormal palate morphology, Triangular mouth, High palate, Hypotonia, Bilateral cryptorchidism, Muscular hypotonia of the trunk, Joint contracture of the 5th finger, Joint contracture of the 4th finger, Joint contracture of the hand, Abnormality of mouth shape, Flexion contracture of finger, Abnormal oral morphology, Triangular-shaped open mouth 1 1 Andreas Laner
00398527 Decipher249420/A119 PubMed: Froyen 2008, PubMed: Froyen 2012, PubMed: Moey 2015 - M - United Kingdom (Great Britain) - - - - - ID see paper; ..., developmental delay, mild-moderate intellectual disability; delayed speech development; febrile seizures, attention-deficit hyperactivity disorder 1 1 Johan den Dunnen
00398528 Pat4 PubMed: Moey 2015 - - - - - - - - - ID see paper; ..., severe intellectual disability; 11y-speech delay, no words; microcephaly, hypotonia, hypogonadism, myoclonus; 11y-st, 11y-not walking 1 1 Johan den Dunnen
00398529 A057 PubMed: Froyen 2008, PubMed: Froyen 2012, PubMed: Moey 2015 - - - - - - - - - ID see paper; ..., moderate intellectual disability; speech delay, limited speech later in life; hyperactive 1 1 Johan den Dunnen
00398530 ON1 PubMed: Froyen 2012, PubMed: Moey 2015 - - - - - - - - - ID see paper; ..., developmental delay, mild-moderate intellectual disability; marked speech delay, 7y-partial lack of speech; hyperactivity, attention problems, self-destructing behavior; facial abnormalities 1 1 Johan den Dunnen
00398531 AU88848 PubMed: Froyen 2012, PubMed: Moey 2015 - - - - - - - - - ID see paper; ..., mild intellectual disability; 1 1 Johan den Dunnen
00398532 FTD PubMed: Froyen 2012, PubMed: Moey 2015 - - - - - - - - - ID see paper; ..., developmental delay, mild intellectual disability ; speech delay; functional heart murmur, chronic vomiting, diarrhea, urolithiasis, bilateral inguinal hernia, cryptorchidism; facial dysmorphies; paroxysmal sleep episodes; attention-deficit hyperactivity disorder, hyperactivity; EEG abnormal 1 1 Johan den Dunnen
00398533 F538 PubMed: Froyen 2012, PubMed: Moey 2015 - M - - - - - - - ID see paper; ..., moderate intellectual disability; stutter, limited speech; 1 1 Johan den Dunnen
00398534 A009/MRX17 {PMID Gedeon 1994:7943039}, PubMed: Froyen 2008, PubMed: Froyen 2012, PubMed: Moey 2015 - - - Australia - - - - - ID see paper; ..., mild intellectual disability; slow speech development; hyperactivity 1 1 Johan den Dunnen
00398535 SBI PubMed: Froyen 2012, PubMed: Moey 2015 - - - - - - - - - ID see paper; ..., developmental delay, mild intellectual disability; remarkably slow speech; down-slanting palpebral fissures, prominent supraorbital ridge 1 1 Johan den Dunnen
00398536 Fam3 PubMed: Froyen 2008, PubMed: Froyen 2012, PubMed: Moey 2015 - - - - - - - - - ID see paper; ..., moderate intellectual disability; remarkable speech difficulties, hypotonic open mouth, only one or two words, severe dysarthria ; facial dysmorphisms 1 1 Johan den Dunnen
00398537 A049/MRX31 PubMed: Donnelly 1996, PubMed: Froyen 2008, PubMed: Froyen 2012, PubMed: Moey 2015 - - - Australia - - - - - ID see paper; ..., global developmental delay, moderate intellectual disability; slow to start speaking; 1 1 Johan den Dunnen
00398538 P083 PubMed: Froyen 2008, PubMed: Froyen 2012, PubMed: Moey 2015 - - - - - - - - - ID see paper; ..., mild intellectual disability; speech delay; moderate macroorchidism, synophris, diastema between incisor teeth, delayed tendon reflexes 1 1 Johan den Dunnen
00398539 EX469 PubMed: Froyen 2012, PubMed: Moey 2015 - M - - - - - - - ID see paper; ..., moderate intellectual disability; poor language abilities; urogenital anomalies, gastroesophageal reflux with chronic vomiting, seizures; EEG abnormal 1 1 Johan den Dunnen
00433674 - - - - - - - - - - - MRXST developmental delay, facial abnormalities, short stature 1 1 Marketa Wayhelova
00435493 Pat9 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, no affected relatives M - - - - - - - NDD see paper; ..., pregnancy uncomplicated, prolonged delivery, vacuum extraction; birth 38w+6d; language/speech delay; motor delay, 10m-first steps; no behavior problems; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances, global developmental delay; no seizures/epilepsy; hypotonia; no dystonia; no spasticity; joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; preauricular tag on the right side; hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism 1 1 Johan den Dunnen
00462241 - - - F - Germany - - - - - MRXST EEG abnormality, Short stature, Neurodevelopmental delay, Autistic features 1 1 Andreas Laner
00468980 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
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