All individuals with variants in gene KBTBD13

24 entries on 1 page. Showing entries 1 - 24.
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00035980 - - - - - Germany - - - - - ? suspected Strukturmyopathie DD CMS 1 1 Andreas Laner
00035981 - - - - - Germany - - - - - ? suspected Strukturmyopathie DD CMS 1 1 Andreas Laner
00035982 - - - - - Germany - - - - - ? suspected Strukturmyopathie DD CMS 1 1 Andreas Laner
00035983 - - - - - Germany - - - - - ? suspected Strukturmyopathie DD CMS 1 1 Andreas Laner
00035984 - - - - - Germany - - - - - ? suspected Strukturmyopathie DD CMS 1 1 Andreas Laner
00205841 - - - F - United States - - - - - MYOP scoliosis, cores in muscle biopsy 1 1 Tom Winder
00205842 - PubMed: Sambuughin 2010, OMIM:var0002 4-generation family, 4 affecteds - - Australia Belgium - - - - NEM EM rods and cores, progression variable, muscle weakness proximal greater then distal (neck some), no cardiac abnormalities 1 4 Nyamkhishig Sambuughin
00205843 - PubMed: Sambuughin 2010, OMIM:var0002 5-generation family, 15 affecteds - - Australia Netherlands - - - - NEM EM rods and cores, slow progression (diabling>50y), muscle weakness neck/proximal, no cardiac abnormalities 1 15 Nyamkhishig Sambuughin
00205844 - PubMed: Gommans 2003 5-generation family, 28 affecteds - - Netherlands - - - - - NEM EM rods and cores, slow progression, muscle weakness neck/proximal, no cardiac abnormalities 1 28 Nyamkhishig Sambuughin
00205845 - Olive M&N, in press 3-generation family, 5 affecteds - - Spain - - - - - NEM EM rods and cores, slow progression (diabling>30y), muscle weakness proximal/distal (neck 2x), no cardiac abnormalities 1 5 Nyamkhishig Sambuughin
00205846 - PubMed: Sambuughin 2010, OMIM:var0003 - - - Australia - - - - - NEM EM rods and cores 1 1 Nyamkhishig Sambuughin
00207808 - - - F - Germany - - - - - - HP:0100022 (Abnormality of movement); HP:0012638 (Abnormality of nervous system physiology); HP:0001337 (Tremor); HP:0002169 (Clonus); HP:0040081 (Abnormal levels of creatine kinase in blood) 1 1 Andreas Laner
00208841 - - - M - Germany - - - - - - HP:0002015 (Dysphagia); HP:0000651 (Diplopia); HP:0012638 (Abnormality of nervous system physiology); HP:0001608 (Abnormality of the voice); HP:0003011 (Abnormality of the musculature); HP:0410011 (Abnormality of masticatory muscle); HP:0000504 (Abnormality of vision); HP:0012373 (Abnormal eye physiology); HP:0001611 (Nasal speech); HP:0003124 (Hypercholesterolemia); HP:0001939 (Abnormality of metabolism/homeostasis); HP:0000508 (Ptosis) 1 1 Andreas Laner
00218358 29850975-Pat PubMed: Saini 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M no India - - - - - RSMD see paper; delay attainment motor milestones since early infancy, reduced muscle bulk, neck stiffness with restriction neck flexion movements, rigid spine, proximal limb-girdle and intercostal weakness, hyperlaxity metacarpophalangeal joints, bilateral shoulder and ankle contractures, with diminished muscle stretch reflexes 1 1 Johan den Dunnen
00281788 Pat8 PubMed: Sevy 2016, PubMed: Cerino 2020 - M - France - - - - - MPD - 1 1 Mathieu Cerino
00295274 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 3 Mohammed Faruq
00295416 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00305748 P16 PubMed: Yu 2017 analysis 180 LGMD patients F - China - - - - - LGMD mild (MRC grade ≥4/5); lower limbs more severe than upper limbs; myalgia; elevated serum CK (max. 5065 IU/L); biopsy myopathic; non-rimmed vacuole; inflammation 1 1 Johan den Dunnen
00374772 S-1480 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00391948 MDCRC/0308/B-374 PubMed: Karthikeyan 2024 - M - India - - - yes - DMD delayed fine motor development (HP:0010862), calf muscle hypertrophy (HP:0008981) 1 1 Lakshmi Bremadesam
00442670 Pat42 PubMed: Westra 2019 family, affected mother/daughter/sib F - - - - - - - NMD onset childhood; proximal limb-girdle weakness with respiratory dysfunction; muscle biopsy: increase in fiber size variation and presence of internal nuclei 1 3 Johan den Dunnen
00442754 Pat126 PubMed: Westra 2019 - M - - - - - - - NMD Contractures, rigid spine, myopathy with rimmed vacuoles 1 1 Johan den Dunnen
00442774 Pat146 PubMed: Westra 2019 - M - - - - - - - NMD Distal muscle weakness, autosomal dominant 1 1 Johan den Dunnen
00442786 Pat158 PubMed: Westra 2019 - M - - - - - - - NMD Congenital myopathy, autosomal dominant 1 1 Johan den Dunnen
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