All individuals with variants in gene UNC45B

13 entries on 1 page. Showing entries 1 - 13.
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00004214 FamPatI1;CC00116 PubMed: Hansen 2014, Journal: Hansen 2014, PubMed: Kessel 2021 3-generation family, 9 affected (5F, 4M) F no Denmark Danish - - - - CTRCT - 1 9 Lars Hansen
00265765 Pat1 Donkervoort WMS2019, AbsO18, Journal: Donkervoort 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Puerto Rico Hispanic - - - - MYOP 6y-proximal muscle weakness; slowly progressive axial and proximal weakness; calf hypertrophy; CK level normal range; EMG mildly neurogenic; 18y-biopsy vastus lateralis moderate variation in fiber size with rounded and elongated atrophic fibers and numerous internalized nuclei; areas devoid of oxidative staining, suggestive of cores; uniform type 1 fiber predominance; EM large areas of disorganization and some diffusion of the Z-line material; 18y-FVC 0.62; 18y-ECG normal; dysphagia, fatigue; 3m-deceased brother with history of nystagmus, vomiting suspected mitochondrial disorder unknown genetic etiology 1 1 Johan den Dunnen
00265766 Pat2 Donkervoort WMS2019, AbsO18, Journal: Donkervoort 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - Hispanic - - - - MYOP 7m-progressive scoliosis, poor weight gain; axial and proximal weakness; calf hypertrophy; normal CK level; EMG myopathic; 5y muscle biopsy slight variation in fiber size with increased number of internalized nuclei; areas devoid of oxidative staining, consistent with eccentric cores; uniform type 1 fiber predominance; EM large areas of disorganization and some diffusion of the line material; 19y-FVC 0.45; aortic coarctation, inferior vena cava s/p surgery; episode of supraventricular tachycardia, primary amenorrhea 2 1 Johan den Dunnen
00265767 Pat3 Donkervoort WMS2019, AbsO18, Journal: Donkervoort 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - - - - MYOP delayed motor milestones, 2y-walk; slowly progressive proximal weakness; CK 220 (U/L); EMG myopathic; 26y-biopsy deltoid, large, irregular areas of oxidative defects and myofibrillar disorganization; evidence of fuschinophilic inclusions on trichrome stain; type 1 fiber predominance; EM cytoplasmic bodies and granulo-filamentous aggregates; 26y-FVC 0.60; 26y-ECG normal; dysphagia 1 1 Johan den Dunnen
00265768 Pat4 Donkervoort WMS2019, AbsO18, Journal: Donkervoort 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - - - - MYOP delayed motor milestones, 2y-walk; slowly progressive proximal weakness; calf hypertrophy; CK level 137 U/L (normal range); EMG myopathic; 31y-biopsy deltoid, large, irregular areas of oxidative defects and myofibrillar disorganization; evidence of fuschinophilic inclusions on trichrome stain; type 1 fiber predominance; EM cytoplasmic bodies and granulo-filamentous aggregates; 31y-FVC 0.81; 31y-ECG tachycardia; dysphagia 1 1 Johan den Dunnen
00265769 Pat5 Donkervoort WMS2019, AbsO18, Journal: Donkervoort 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - - - - MYOP 4y-proximal muscle weakness; slowly progressive proximal weakness; calf hypertrophy; atrophy of shoulder girdle; CK 56 U/L; EMG not myopathic; 13y-biopsy quadriceps; severe fatty replacement; increased number of internalized nuclei in the remaining muscle fibers; 19y-FVC 0.80; 15y-ECG normal; fatigue 1 1 Johan den Dunnen
00320227 Pat6 Journal: Donkervoort 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Thailand - - - - - MYOP 6y-proximal muscle weakness; slowly progressive childhood onset proximal weakness; CK 149 U/L; EMG myopathic; 43y-biopsy biceps, moderate variation in fiber size with increased number of internalized nuclei; evidence of ring fibers, moth-eaten and core-like fibers on NADH stain; ring- and necklace-like cytoplasmic bodies and rimmed vacuoles on trichrome stain; type 1 fiber predominance; 53y-ECG incomplete R bundle branch block 1 1 Johan den Dunnen
00320228 Pat7 Journal: Donkervoort 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Thailand - - - - - MYOP 5y-proximal muscle weakness; slowly progressive childhood onset proximal muscle weakness; CK 95 U/L; ECG, left ventricular hypertrophy; 55y-ECG left ventricular hypertrophy; episode of pneumonia with respiratory failure, difficulty weaning of ventilator; 55y-nighttime BiPAP 1 1 Johan den Dunnen
00320229 Pat8 Journal: Donkervoort 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Thailand - - - - - MYOP 6y-muscle weakness; slowly progressive proximal muscle weakness; calf hypertrophy; CK 241 U/L; 50y-ECG complete R bundle branch block, tachycardia 1 1 Johan den Dunnen
00320230 Pat9 Journal: Donkervoort 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Italy Sicily - - - - MYOP congenital hypotonia, weak cry, feeding difficulties; delayed motor milestones; 3y-walk; proximal weakness; CK 35 U/L; 5y-biopsy vastus lateralis, variation in fiber size with increased number of internalized nuclei; evidence of fuschinophilic inclusions on trichrome stain; large, irregular areas of oxidative defects and myofibrillar disorganization; 5y-ECG normal; ankle contractures and prominent calcaneus 2 1 Johan den Dunnen
00320231 Pat10 Journal: Donkervoort 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Sweden - - - - - MYOP congenital hypotonia, knee contractures, feeding and respiratory difficulties; axial weakness; moderate generalized atrophy; CK normal; EMG myopathic; 10y-biopsy vastus lateralis, type 1 fiber predominance, occasional internalized nuclei; occasional fibers with areas devoid of oxidative staining; 13y-FVC 0.99; aortic coarctation and VSD s/p surgery; mild ophthalmoplegia, joint hypermobility, premature adrenarche 1 1 Johan den Dunnen
00415394 Pat3-I PubMed: Zanoni 2021 - F no - white - - - - NDD 40w-birth spontaneous vaginal, length 48 cm (-1.68), weight 2170 g (-3.09); hypotonia, failure to thrive; height 148cm (-2.28), weight 60Kg (+0.24)/ OFC: 48.5cm (-6.34), BMI 27.4 (1.59); severe intellectual disability; 8m-sit; 14m-stand; 18m-walk; not toilet trained; dependent for all cares; delayed speech, can speak few words and sing songs; not scholarized; autistic features; happy, <20y-aggressive; no sleep disturbances; no seizures; 35y-MRI brain/spinal normal; hypotonia; no hearing loss; bilateral keratoconus, retinitis pigmentosa, optic atrophy, 32y-corneal transplant; no pulmonary abnormalities; no cardiovascular abnormalities; constipation; no genitourinary abnormalities; no endocrinological abnormalities; no metabolic abnormalities; no skeletal/limb abnormalities; high forehead, deeply set eyes, bulbous tip of the nose, short philtrum, prominent upper central incisors 1 1 Johan den Dunnen
00458526 - - - - - France - - - - - MFM - 1 1 Svetlana Gorokhova
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