All individuals with variants in gene IL1RAPL1

51 entries on 1 page. Showing entries 1 - 51.
Legend   How to query  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00000019 - PubMed: Almomani 2011 - - - - - - 0 - - autism, BMD/DMD, TSC - 2 1 Global Variome, with Curator vacancy
00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 3 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 2 1 Yu Sun
00017841 - PubMed: Ramos-Brossier 2015, Journal: Ramos-Brossier 2015 3-generation family, 3 affecteds (1F, 2M), unaffected carrier (grand)mother M no ? (unknown) - - 0 - - ID see paper; PatII2 (30y) moderate ID, autistic-like behavior extraverted, aggressive, language/motor delay, large hands, big ears, long face, synophrys; PatII3 (43y) mild ID, no major behavioral problems, autistic-like behavior, language/motor delay, facial dysmorphism, big ears, round face, neurological examination normal; PatIII2 (female, 10y) ID needing special care 1 3 Pierre Billuart
00017846 - PubMed: Ramos-Brossier 2015, Journal: Ramos-Brossier 2015 2-generation family, affected male, carrier mother/sister M no ? (unknown) - - 0 - - ID see paper; 9m-some delay motor development, 9m-sitting, 25m-walking; 27m speaks only three words, formal developmental testing confirmed delay, height 84 cm (below 3rd percentile), weight 12.7 kg (25th percentile), head circumference 48.4 cm (25th percentile), mild facial dysmorphism, prominent forehead, generalized joint hyperlaxity, normal male genitalia, skin significant eczema, brain MRI normal; mother learning difficulties, she attended special education; sister with learning difficulties 1 1 Pierre Billuart
00017851 - PubMed: Tarpey 2009; PubMed: Ramos-Brossier 2015, Journal: Ramos-Brossier 2015 2-generation family, 2 affected males, carrier mother M no (France) - - 0 - - ID see paper; PatII1 (deceased) moderate ID (IQ 36–51), gynecomastia, obesity, small testes, normal height (169 cm)/head circumference (54.5 cm), sexual deviant behavior (treated with anti-androgen medication and necessitating living in care); PatII2 (57y) mild ID, obesity, significant behavioral issues, normal head circumference, normal facial features, gynecomastia, normal hands and feet; mother I-2 phenotypically normal, normal height (153 cm)/head circumference (54.2 cm), low average intelligence 1 2 Pierre Billuart
00017895 19377158-Pat? PubMed: Tarpey 2009 - M ? - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX for details contact Lucy Raymond (flr24 @ cam.ac.uk) 1 1 Lucy Raymond
00017896 19377159-Pat? PubMed: Tarpey 2009 - M ? - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX for details contact Lucy Raymond (flr24 @ cam.ac.uk) 1 1 Lucy Raymond
00017898 - PubMed: Carrie 1999 2-generation family, 3 affected brothers M no - - - 0 - - MRX;IDX - 1 3 Johan den Dunnen
00017899 - PubMed: Carrie 1999 - M no - - - 0 - - MRX;IDX - 1 1 Johan den Dunnen
00029652 - PubMed: Ramos-Brossier 2015, Journal: Ramos-Brossier 2015 family, 2 affected brothers M - - - - 0 - - ID - 1 2 Johan den Dunnen
00029653 - PubMed: Piton 2008, Journal: Piton 2008 - F no Canada French Canadian - 0 - - autism see paper; Asperger, autism, no language delay, no intellecutal disability, functioning borderline range intelligence (5h centile Wechsler Intelligence Scale for Children), fluid intelligence around the 25th centile (Raven Matrices Test), adaptation level below the 2nd centile (Vinland Adaptive Behavior Scale). 1 1 Johan den Dunnen
00029654 - PubMed: Piton 2008, Journal: Piton 2008 142 ASD cases M - United Kingdom (Great Britain) Anglo-Saxon - 0 - - autism - 1 1 Johan den Dunnen
00029655 - PubMed: Piton 2008, Journal: Piton 2008 190 controls M - Canada French Canadian - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00029656 - PubMed: Piton 2008, Journal: Piton 2008 - M - Canada French Canadian - 0 - - autism - 1 1 Johan den Dunnen
00029657 - PubMed: Piton 2008, Journal: Piton 2008 - M - Canada French Canadian - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00029658 - PubMed: Piton 2008, Journal: Piton 2008 - F - Canada French Canadian - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00029659 - PubMed: Piton 2008, Journal: Piton 2008 2-generation family, 3 affected brothers, unaffected carrier mother M - - - - 0 - - ID see paper; PatII3 (8y) intellectual disability, autistic signs (too severely affected to be formally tested), .. 1 3 Johan den Dunnen
00029661 - PubMed: Carrie 1999 - M - (France) - - 0 - - MRX;IDX - 1 1 Johan den Dunnen
00029662 - PubMed: Carrie 1999 - M - - - - 0 - - AHC, MRT - 1 1 Johan den Dunnen
00029663 - PubMed: Carrie 1999 - M - ? (unknown) - - 0 - - AHC, GKD, ID - 1 1 Johan den Dunnen
00029664 - PubMed: Carrie 1999 - M - ? (unknown) - - 0 - - AHC, ID - 1 1 Johan den Dunnen
00029665 - PubMed: Carrie 1999 - M - ? (unknown) - - 0 - - AHC, ID - 1 1 Johan den Dunnen
00029674 - PubMed: Tabolacci 2006, PubMed: Kozak 1993 3-generation family, 4 affected males, 5 carrier females - no Italy - - 0 - - MRX;IDX see paper; 2 females with learning difficulties 1 4 Johan den Dunnen
00029675 - PubMed: de Brouwer 2007, PubMed: Kerr 1992 - M - ? (unknown) European - 0 - - MRX;IDX see paper 1 1 Johan den Dunnen
00029677 - PubMed: Nawara 2008 4-generation family, 4 affected males, 4 carrier females M - France - - 0 - - MRX;IDX see paper; ... 1 4 Johan den Dunnen
00034404 - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - 0 - - AHC, GKD, MRX;IDX - 1 1 Johan den Dunnen
00034406 - PubMed: Zhang 2004 - M - - - - 0 - - AHC, GKD, MRX;IDX intellectual disability (HP:0001249) 1 1 Johan den Dunnen
00034407 - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - 0 - - AHC, GKD, MRX;IDX - 1 1 Johan den Dunnen
00034408 - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - 0 - - AHC, GKD, MRX;IDX - 1 1 Johan den Dunnen
00034411 - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - 0 - - AHC, GKD, MRX;IDX - 1 1 Johan den Dunnen
00034412 - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - 0 - - AHC, GKD, MRX;IDX - 1 1 Johan den Dunnen
00034413 - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - 0 - - AHC, GKD, MRX;IDX - 1 1 Johan den Dunnen
00034414 - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - 0 - - AHC, GKD, MRX;IDX - 1 1 Johan den Dunnen
00034415 - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - 0 - - AHC, GKD, MRX;IDX - 1 1 Johan den Dunnen
00034417 - PubMed: Piko 2009 analysis 135 BMD/DMD cases ? - Hungary - - 0 - - MRX;IDX - 1 1 Johan den Dunnen
00034418 - PubMed: Piko 2009 analysis 135 BMD/DMD cases ? - Hungary - - 0 - - AHC, GKD, MRX;IDX - 1 1 Johan den Dunnen
00122371 10757639-Fam4482 PubMed: Jin 2000, PubMed: Greener 2002 2-generation family, 3 affected brothers (12y, 14y, 17y) M no United Kingdom (Great Britain) - - 0 - - AHC, DMD, GKD all mild myopathy with clear Becker-type course, glycerol kinase deficiency, adrenal hypoplasia; all bilateral undescended testes (surgically corrected); eldest 12y-developed epilepsy (treated successfully for 2y, seizures recently recurred; two younger boys short stature (heights below 3rd-centile, eldest in 10th-centile)all mild mental retardation, younger boys IQ 66–84 (mean 74) and IQ 64–82 (mean 72), eldest expected to perform similarly 1 3 Johan den Dunnen
00168113 - PubMed: Du 2018 - M - China - - 0 - - autism - 1 1 Fei Li
00183136 25644381-FamN14 PubMed: Hu 2016 family, 3 affected, 1 unaffected heterozygous carrier female M - - - - 0 - - MRX;IDX - 1 3 Johan den Dunnen
00269499 Pat8 PubMed: Mikhail 2011, Journal: Mikhail 2011 - M - - - - 0 - - ? see paper; ..., developmental delay, intellectual disability, no behavioral problems, no seizures, language delay, microcephaly, triangular shaped face, mild hypertelorism, upslanted palpebral fissures, diminished tone and strength 1 1 Johan den Dunnen
00289039 Case1 PubMed: Korkut 2016 - M - Turkey - - 0 - - ? see paper; ..., 36d-difficulty to feed, vomiting, weight loss; similarly affected brother died at 7m 1 1 Johan den Dunnen
00289040 case2 PubMed: Korkut 2016 - M - Turkey - - 0 - - ? see paper; ..., 18d- reduced breastfeeding, vomiting, weight loss 1 1 Johan den Dunnen
00289438 Pat1 PubMed: Heide 2015 - F - France - - 0 - - ID pregnancy marked by breakthrough bleeding during first trimester, prenatal ultrasound examination normal; birth 39w, normal measurements; neonatal period uneventful; sit-9m, walk-18m initially difficult with frequent falls; expressive language delayed; hyperopia, multiple serous otitis; 7y-WISC low scores intellectual quotient (50-63); 7y-normal growth height, weight and head circumference; able to write name, recognize alphabet letters; mild joint laxity, no dysmorphic features, no motor deficiency; normal serum CK level; ECG normal, cardiac ultrasound normal, MRI brain normal 1 1 Johan den Dunnen
00289439 Pat2 PubMed: Heide 2015 - F - France - - 0 - - ID uneventful pregnancy; normal birth measurements; sit-10m, walk-18m; language delayed, 5y-first words; 11y-not able to read or write; 10y-muscular pains during physical exercises, initially on feet, extending to legs and hands, associated with severe muscular fatigue; no motor deficiency, morphology 'athletic', global muscular hypertrophy; elevated CK (579 U/l, normal <160 U/l); no myoglobinuria, ECM myogenic pattern, muscle biopsy indicated non-specific histology; ECG and cardiac ultrasound normal; 16y-generalized epilepsy response to monotherapy; MRI brain normal; no dysmorphic features 1 1 Johan den Dunnen
00295985 - - - M - - - - 0 - - ? Abnormality of nervous system physiology (HP:0012638); Motor delay (HP:0001270); Neurological speech impairment (HP:0002167); Language impairment (HP:0002463) 1 1 Andreas Laner
00296775 APN-82 PubMed: Redin 2014 analysis 106 patients; 2-generation family, 2 affected brothers, unaffected carrier mother M - France - - 0 - - ID see paper; ..., moderate intellectual disability 1 2 Johan den Dunnen
00307743 UK10K_FINDWGA5410964 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - 0 - - ID - 1 1 Johan den Dunnen
00307744 UK10K_FINDWGA5411107 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - 0 - - ID - 1 1 Johan den Dunnen
00307745 UK10K_FINDWGA5410971 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - 0 - - ID - 1 1 Johan den Dunnen
00374764 S-151 PubMed: Ganapathy 2019 - - - India - - 0 - - ? - 1 1 Johan den Dunnen
Legend   How to query