All individuals with variants in gene IFT172

79 entries on 1 page. Showing entries 1 - 79.
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00232223 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 2 Yoshito Koyanagi
00232224 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00232225 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 5 Yoshito Koyanagi
00232226 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00232227 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00232228 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 3 Yoshito Koyanagi
00232229 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 2 Yoshito Koyanagi
00232230 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00232231 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 2 Yoshito Koyanagi
00232232 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00232233 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00232234 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00232235 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00232236 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 2 Yoshito Koyanagi
00232237 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00232238 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00232239 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00232240 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 3 Yoshito Koyanagi
00232241 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00232242 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00232243 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 8 Yoshito Koyanagi
00232244 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 10 Yoshito Koyanagi
00232245 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00232246 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 2 Yoshito Koyanagi
00232247 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00232248 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00232249 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00232250 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00232251 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00232252 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00232253 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 7 Yoshito Koyanagi
00232254 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 5 Yoshito Koyanagi
00292703 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 23 Mohammed Faruq
00292704 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 27 Mohammed Faruq
00304815 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00331492 12DG2149 PubMed: Maddirevula 2018 family F yes - Arab - - - - skeletal dysplasia Limb undergrowth, Narrow chest, Polydactyly, Hypertrophic cardiomyopathy, Decreased l Yes 1 1 LOVD
00333837 33 PubMed: Stone 2017 1 affected M - (United States) - - - - - retinal disease clinical category IA1a 2 1 LOVD
00358969 Case71133 PubMed: Tiwari 2016 see paper F - Switzerland - - - - - retinal disease see paper; ... 1 1 LOVD
00358979 Case71808 PubMed: Tiwari 2016 see paper M - Switzerland - - - - - retinal disease see paper; ... 1 1 LOVD
00361933 Pat3 PubMed: Tomas-Roca 2015 - - - - - - - - - MBS see paper; ... 1 1 Johan den Dunnen
00372272 UW112-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - JBTS see paper; ... 1 1 LOVD
00372273 UW112-4 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - JBTS see paper; ... 1 1 LOVD
00383765 RD18070031_A PubMed: Gao 2019 - ? - China - - - - - retinal disease - 1 1 LOVD
00383769 RD18070901_A PubMed: Gao 2019 - ? - China - - - - - retinal disease - 1 1 LOVD
00383771 RD18070903_A PubMed: Gao 2019 - ? - China - - - - - retinal disease - 1 1 LOVD
00388469 R95-149 PubMed: Zhang-2019 Unsolved case: biallelic causative mutations not identify - - - white - - - - ? - 1 1 LOVD
00388527 2 PubMed: Hirano 2020 - F no Japan - - - - - retinal disease intellectual disability, rod-cone dystrophy, obesity, polydactyly, renal fibrosis, BMI: 23, strabismus, atrial septal defect, hearing impairment, astigmatism, intracranial hypertension 2 1 LOVD
00391361 17 {PMID:Méjécase 2020:3278337 - ? - United Arab Emirates - - - - - retinal disease - 1 1 LOVD
00394323 RP5 PubMed: Thorsteinsson 2021 - ? - Iceland - - - - - retinal disease Late-onset RP, slowly progressing, ERG consistent with RP 1 1 LOVD
00412571 NPH2218 PubMed: Halbritter 2013 - F no - Hungarian - - - - SRTD10 skeletal features: thoracic dystrophy (small bell-shaped thorax), short stature, short long bone; renal disease (end-stage): nephronophthisis (6y); other clinical features:retinal degeneration, liver fibrosis, ocular motor apraxia, cerebellar vermis hypoplasia, intellectual disability, obesity 2 1 LOVD
00412572 A3189-21 PubMed: Halbritter 2013 - F yes - Pakistani - - - - SRTD10 skeletal features: short stature; renal disease (end-stage): nephronophthisis (9y); other clinical features:retinal degeneration, intellectual disability, died at 12 years 1 1 LOVD
00412573 UCL-87 PubMed: Halbritter 2013 - M yes - Turkish - - - - SRTD10 skeletal features: thoracic dystrophy (small bell-shaped thorax), trident acetabulum, polydactyly (feet); renal disease (end-stage): none; other clinical features:liver fibrosis, died at 18 months 1 1 LOVD
00412574 UCL-107 PubMed: Halbritter 2013 - M no - Turkish - - - - SRTD10 skeletal features: thoracic dystrophy (small bell-shaped thorax), trident acetabulum; renal disease (end-stage): none; other clinical features:liver fibrosis, died at 3 months 1 1 LOVD
00412575 NPH2161 PubMed: Halbritter 2013 - F no - French - - - - SRTD10 skeletal features: brachydactyly; renal disease (end-stage): nephronophthisis (34y); other clinical features:retinal degeneration, cholestasis 2 1 LOVD
00412576 B1 PubMed: Halbritter 2013 - F no - Belgian - - - - SRTD10 skeletal features: thoracic dystrophy (small bell-shaped thorax), trident acetabulum, PSCE, brachydactyly, polydactyly; renal disease (end-stage): none; other clinical features:retinal degeneration, intellectual disability 2 1 LOVD
00412577 SKDP-44.3 PubMed: Halbritter 2013 - M no - British - - - - SRTD10 skeletal features: thoracic dystrophy (small bell-shaped thorax), trident acetabulum, short stature, brachydactyly; renal disease (end-stage): mild structural abnormalities; other clinical features:retinal degeneration, cholestasis, ocular motor apraxia, intellectual disability, obesity 2 1 LOVD
00412578 A3215-21 PubMed: Halbritter 2013 - M no - South American - - - - SRTD10 skeletal features: thoracic dystrophy (small bell-shaped thorax), short stature, genu valgum; renal disease (end-stage): nephronophthisis (12y), renal transplantation (13y); other clinical features:intellectual disability 2 1 LOVD
00412579 F108-21 PubMed: Halbritter 2013 - F no - German - - - - SRTD10 skeletal features: phalangeal cone-shaped epiphysis, brachydactyly; renal disease (end-stage): nephronophthisis (11y); other clinical features:retinal degeneration, liver fibrosis, impaired glucose tolerance, obesity 2 1 LOVD
00412580 SKDP-165. PubMed: Halbritter 2013 - F no - Singaporean and Malaysian - - - - SRTD10 skeletal features: thoracic dystrophy (small bell-shaped thorax), trident acetabulum, polydactyly, short long bone; renal disease (end-stage): early cystic dysplasia; other clinical features:liver fibrosis, ventriculoseptal defect, hydrocephalus, induced abortion 2 1 LOVD
00412581 A2052-21 PubMed: Halbritter 2013 - F yes - Filipino - - - - SRTD10 skeletal features: thoracic dystrophy (small bell-shaped thorax), trident acetabulum, phalangeal cone-shaped epiphysis, brachydactyly; renal disease (end-stage): nephronophthisis (2y), renal transplantation (4y); other clinical features:retinal degeneration, liver fibrosis, ocular motor apraxia, cerebellar vermis hypoplasia, intellectual disability 1 1 LOVD
00412582 A2052-22 PubMed: Halbritter 2013 - M yes - Filipino - - - - SRTD10 - 1 1 LOVD
00412583 A3037-21 PubMed: Halbritter 2013 - M no - European American - - - - SRTD10 skeletal features: phalangeal cone-shaped epiphysis, brachydactyly; renal disease (end-stage): nephronophthisis (20y); other clinical features:retinal degeneration, liver fibrosis, obesity 2 1 LOVD
00412584 A3037-22 PubMed: Halbritter 2013 - M no - European American - - - - SRTD10 - 2 1 LOVD
00412600 IV:3 PubMed: Shaefer 2015 brother of IV:5 M yes - Melanesian - - - - BBS walked after the age of 2y; no polydactyly but a syndactyly between the second and the third toes; retinitis pigmentosa suspected at 3y7m months because of hemeralopia, confirmed at 8y on ophthalmologic examination; early overweight, at last medical examination -18y:weight: 116.5 kg (>+3SD) for 163 cm ( -2SD); learning difficulties that implied the need for special education; asthma; X-rays of the skeleton: no anomaly of the thorax, no polydactyly or brachydactyly; auditory evoked potential and audiogram: no deafness; cerebral magnetic resonance imaging and electroencephalogram: normal; renal ultrasound: no renal or hepatic anomalies, normal renal and hepatic functions and no diabetes 1 1 LOVD
00412601 IV:5 PubMed: Shaefer 2015 brother of IV:3 M yes - Melanesian - - - - BBS delayed development and obesity; 2y: hypogonadism with micropenis and bilateral cryptorchidism; 3y: retinitis pigmentosa; 13y weight: 111 kg (>+3SD) for 157 cm (+0.5SD), orthopedic and respiratory complications; X-rays of the skeleton: postaxial polydactyly of the hand and the preaxial polydactyly of the feet with duplication of the metatarsus and the phalanges without other abnormality; brain magnetic resonance imaging, abdominal ultrasound, and biological renal, hepatic and pancreatic functions: normal 1 1 LOVD
00412602 ? PubMed: Lucas-Herald 2015 - M - - white (Scottish / German) - - - - ? born at 42 weeks; hospitalised 3 days due to respiratory distress; slow to feed but did not require tube feeding or develop hypoglycemia, discharged on Day 5; no family history, three healthy siblings. 17m: short stature and obesity despite difficulty with weaning and feeding, body mass index high despite taking only 25 mL/kg/d of milk and minimal solids; midfacial hypoplasia, depressed nasal root, a single palmar crease, left-sided clinodactyly, and one small ( 0.5 cm) cafe-au-lait patch on the back; no evidence of microcephaly or genital abnormalities; 13.9 kg; length 75.4 cm (-2.3 SDs) and a body mass indexof24.4(+4.0 SDs); motor and personal skills delayed; language delay and poor attention noticed by the age of 3y but subsequently improved.; thyroid function tests age 1y normal; persisting, proportionate short stature at age 3.6 years, serum IGF-I was measured, ranging from 8-17 ng/mL (reference range, 40-100 ng/mL); arginine/ACTH stimulation test (0.5 g/kg arginine; 250 mcg synacthen): a peak GH level of 7.5 ng/mL and peak cortisol of 43.7 g/dL; LHRH stimulation test (100 mcg LHRH): basal levels of LH and FSH of 0.1 mIU/mL and 0.4 mIU/mL increasing to 2.7 mIU/mL and 1.9 mIU/mL, respectively, at 60 minutes; IGF-I generation test (25 mcg/kg GH once daily for 3 d): increase in serum IGF-I from 22 to 57 ng/mL; a trial of recombinant human growth hormone (rhGH) therapy (0.5 mg once daily[0.03 mcg/kg/d]) age 4 years, treatment continued as he displayed a good growth response with an increase in height velocity from 4.6 to 8.5 cm per year; 5y: magnetic resonance imaging (MRI) brain scan: anterior pituitary hypoplasia and an ectopic posterior pituitary gland, repeated 14.5y - no significant change, anterior pituitary continued to remain small despite normal entry and progress through puberty, repeat ACTH stimulation test at age 14.5 years: a peak cortisol of 26.6 g/dL at 60 minutes. 5y: bilateral knee pain and a waddling gait, and a skeletal survey showed marked metaphyseal dysplasia of the hips as well as some evidence at the knees and ankles without the presence of any other skeletal abnormalities such as cone shaped epiphyses; 9y: bilateral coxa vara and progressed to bilateral femoral osteotomy following a stress fracture of his right femoral neck; despite a normal ophthalmological examination and electroretinogram at 1y, by 9y he had increasing difficulty with vision, particularly at night; repeat electroretinogram demonstrated a retinopathy of his rods and cones; 11y: hypertension; ultrasound and dimercaptosuccinic acid radionuclide kidney scan: discrepancy in the size of his kidneys (right kidney, -1.2 SDs; left kidney, +0.5 SDs) and loss of cortical medullary differentiation but no scarring or difference in uptake; renal function deteriorated and at age 14y required hemodialysis, progressing to renal transplantation 2 1 LOVD
00412603 Family 1, II.1 PubMed: Bujakowska 2015 - F - - white - - - - BBS retinal disease: retinitis pigmentosa with atrophic changes in the macula; polydactyly/skeletal anomalies: bilateral post-axialcutaneous polydactyly; liver disease: elevated transaminases; obesity (BMI = 43.2); other features: hypercholesterolemia, pancreatitis, speech abnormalities in childhood (initial consonant omission) 2 1 LOVD
00412604 Family 1, II.2 PubMed: Bujakowska 2015 - F - - white - - - - BBS retinal disease: retinitis pigmentosa with granularities and cysts in the macula; polydactyly/skeletal anomalies: not detected; liver disease: elevated transaminases; obesity (BMI = 36.9); other features: speech abnormalities in childhood (initial consonant omission) 2 1 LOVD
00412605 Family 2, II.1 PubMed: Bujakowska 2015 - F yes - white - - - - retinal disease retinal disease: retinitis pigmentosa with lamellar macular hole on the left and optic nerve drusen visible on the right eye; polydactyly/skeletal anomalies: not detected; liver disease: not tested; no obesity; other features: CD4 lymphopenia from unknown origin with recurrent pneunompathies and ear-nose-throat infections regularly treated with antibiotics 1 1 LOVD
00412606 Family 3, II.2 PubMed: Bujakowska 2015 - M - - white - - - - retinal disease retinal disease: retinitis pigmentosa with preserved foveal lamination, epiretinal membrane, cysts in the macula and optic nerve drusen; polydactyly/skeletal anomalies: history of scoliosis 11-12y, never treated, no back problems; liver disease: not tested; no obesity; other features: none 2 1 LOVD
00414432 WHP99 PubMed: Sun 2018 - M - China - - - - - ? - 2 1 LOVD
00429610 - PubMed: Panneman 2023 - F - - - - - - - RP - 2 1 Daan Panneman
00429868 - PubMed: Panneman 2023 - M - - - - - - - RP - 2 1 Daan Panneman
00429879 - PubMed: Panneman 2023 - F - - - - - - - RP - 2 1 Daan Panneman
00433328 Pat1.1 PubMed: Jacquemin 2023 - F - - Morocorpus callosuman - - - - HYDRO hydrocephaly; severe encephalopathy; severe intellectual deficiency; MRI Sylvius aqueduct stenosis 1 1 Johan den Dunnen
00436432 2910613 Villafuerte-de la Cruz RA, et al., 2023. Submitted - M no Mexico Hispanic - - - none retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510 2 1 Rocio Villafuerte-de la Cruz
00447622 SRP-1289 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - ? - 2 1 Johan den Dunnen
00460991 - - - - - Netherlands - - - - - ? - 1 1 Tjakko van Ham
00460992 - - - - - Netherlands - - - - - ? - 1 1 Tjakko van Ham
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