All individuals with variants in gene CHRNG

47 entries on 1 page. Showing entries 1 - 47.
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00035244 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035245 - - - - - Germany - - 0 - - ? familiar Escobar syndrome; daughter: Escobar syndrome-affection;parents are cousins; MGZ #62984: DD hereditary neuropathy, multifokale sensomotorische demyelinisierende axonale PNP, 1 1 Andreas Laner
00117822 - PubMed: Hoffmann 2006 - - - Oman - - 0 - - EVMPS Multiple Pterygium Syndrome - Escobar Variant 1 1 Johan den Dunnen
00117823 - PubMed: Vogt 2011 - - - - - - 0 - - EVMPS Multiple Pterygium Syndrome - Escobar Variant 2 1 Johan den Dunnen
00117824 - PubMed: Vogt 2011 - - - Ireland Irish - 0 - - EVMPS Multiple Pterygium Syndrome - Escobar Variant 1 1 Johan den Dunnen
00117825 - Unpublished. For further information contact: julie.vogt@bwhct.nhs.uk - - - Brazil - - 0 - - EVMPS Multiple Pterygium Syndrome - Escobar Variant 1 1 Johan den Dunnen
00117826 - PubMed: Morgan 2006 Affected relative infant death - diaphragmatic eventration - - Pakistan Pakistani - 0 - - EVMPS Multiple Pterygium Syndrome - Escobar Variant 1 1 Johan den Dunnen
00117827 - PubMed: Vogt 2011 - - - - - - 0 - - EVMPS Multiple Pterygium Syndrome - Escobar Variant 2 1 Johan den Dunnen
00117828 - PubMed: Hoffmann 2006 - - - Switzerland - - 0 - - LMPS Multiple Pterygium Syndrome - Lethal Type 1 1 Johan den Dunnen
00117829 - Unpublished. For further information contact julie.vogt@bwhct.nhs.uk - - - - (Spanish / Portuguese ancestry) - 0 - - EVMPS Multiple Pterygium Syndrome - Escobar Variant 1 1 Johan den Dunnen
00117830 - PubMed: Hoffmann 2006 One affected infant death - diaphragmatic eventration - - Germany - - 0 - - EVMPS Multiple Pterygium Syndrome - Escobar Variant 2 1 Johan den Dunnen
00117831 - PubMed: Morgan 2006 Multiple Pterygium Syndrome: nonlethal and lethal - - - Arab - 0 - - LMPS Multiple Pterygium Syndrome: nonlethal and lethal 1 1 Johan den Dunnen
00117832 - PubMed: Morgan 2006 - - - Pakistan Pakistani - 0 - - EVMPS Multiple Pterygium Syndrome - Escobar Variant 1 1 Johan den Dunnen
00117833 - Unpublished. For further information contact julie.vogt@bwhct.nhs.uk - - - Turkey Turkish - 0 - - LMPS Multiple Pterygium Syndrome - Lethal Type 1 1 Johan den Dunnen
00117834 - PubMed: Vogt 2011 - - - - White - 0 - - LMPS Multiple Pterygium Syndrome - Lethal Type 2 1 Johan den Dunnen
00117835 - PubMed: Vogt 2011 - - - - White Mixed (South American ancestry) - 0 - - EVMPS Multiple Pterygium Syndrome - Escobar Variant 1 1 Johan den Dunnen
00117836 - PubMed: Morgan 2006 - - - United Kingdom (Great Britain) White UK - 0 - - EVMPS Multiple Pterygium Syndrome - Escobar Variant 1 1 Johan den Dunnen
00117837 - PubMed: Vogt 2011 - - - - - - 0 - - EVMPS Multiple Pterygium Syndrome - Escobar Variant 1 1 Johan den Dunnen
00117838 - PubMed: Vogt 2011 - - - United Kingdom (Great Britain) White UK - 0 - - EVMPS Multiple Pterygium Syndrome - Escobar Variant 1 1 Johan den Dunnen
00117839 - PubMed: Morgan 2006 - - - United Kingdom (Great Britain) White UK - 0 - - LMPS Multiple Pterygium Syndrome - Lethal Type 1 1 Johan den Dunnen
00117840 - PubMed: Vogt 2011 - - - - White - 0 - - LMPS Multiple Pterygium Syndrome - Lethal Type 1 1 Johan den Dunnen
00117841 - PubMed: Vogt 2011 - - - - - - 0 - - EVMPS Multiple Pterygium Syndrome - Escobar Variant 2 1 Johan den Dunnen
00117842 - PubMed: Hoffmann 2006 Multiple Pterygium Syndrome: nonlethal and lethal - - Lebanon - - 0 - - LMPS Multiple Pterygium Syndrome: nonlethal and lethal 1 1 Johan den Dunnen
00117843 - PubMed: Hoffmann 2006 - - - Turkey - - 0 - - LMPS Multiple Pterygium Syndrome - Lethal Type 1 1 Johan den Dunnen
00117844 - PubMed: Morgan 2006 - - - Turkey Turkish - 0 - - LMPS Multiple Pterygium Syndrome - Lethal Type 1 1 Johan den Dunnen
00117845 - Unpublished. For further information contact julie.vogt@bwhct.nhs.uk - - - - - - 0 - - EVMPS Multiple Pterygium Syndrome - Escobar Variant 1 1 Johan den Dunnen
00117846 - PubMed: Hoffmann 2006 - - - Lebanon - - 0 - - EVMPS Multiple Pterygium Syndrome - Escobar Variant 1 1 Johan den Dunnen
00117847 - - - M yes Turkey Turkish - 0 - - EVMPS multiple pterygium syndrome, Escobar variant; EVMPS 1 1 Selma Demir Ulusal
00117848 - PubMed: Hoffmann 2006 One affected deceased, cause unspecified. - - Lebanon - - 0 - - EVMPS Multiple Pterygium Syndrome - Escobar Variant 1 1 Johan den Dunnen
00117849 - Unpublished. For further information contact: julie.vogt@bwhct.nhs.uk - - - Somalia Somalian - 0 - - EVMPS Multiple Pterygium Syndrome - Escobar Variant 1 1 Johan den Dunnen
00117850 - PubMed: Vogt 2011 - - - Algeria Algerian - 0 - - LMPS Multiple Pterygium Syndrome - Lethal Type 1 1 Johan den Dunnen
00117851 - Unpublished. For further information contact julie.vogt@bwhct.nhs.uk - - - - - - 0 - - LMPS Multiple Pterygium Syndrome - Lethal Type 1 1 Johan den Dunnen
00163650 - - Fetus, TOP 24th GW F no Germany - - 0 yes none arthrogryposis Increased nuchal translucency (HP:0010880), Arthrogryposis multiplex congenita (HP:0002804), Fetal akinesia sequence (HP:0001989), Bilateral talipes equinovarus (HP:0001776), Polyhydramnios (HP:0001561), Hypertelorism (HP:0000316), Palpebral edema (HP:0100540), Micrognathia (HP:0000347) 2 1 Florian Erger
00208753 30461311-Fam PubMed: Sher 2018 3-generation family, 3 affected (3M), unaffected heterozygous carrier parents/relatives M yes Pakistan - - 0 - - EVMPS see paper; ... 1 3 Johan den Dunnen
00248337 Fam15 PubMed: Todd 2015 - - - - - - 0 - - NMD see paper; … 1 1 Johan den Dunnen
00292640 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 185 Mohammed Faruq
00292641 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 58 Mohammed Faruq
00300249 - - - M - - - - 0 - - ? Cryptorchidism (HP:0000028); Abnormality of the face (HP:0000271); Limb joint contracture (HP:0003121); Abnormality of the skeletal system (HP:0000924); Short stature (HP:0004322); Short neck (HP:0000470); Rocker bottom foot (HP:0001838); Abnormality of the musculature (HP:0003011) 1 1 Andreas Laner
00304797 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 8 Mohammed Faruq
00304798 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00307181 D13-1032 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - 0 - - FADS arthrogryposis multiplex congenita; pretibial dimple 1 1 Gianina Ravenscroft
00307195 D16-0928 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - 0 - - DA distal arthrogryposis 1 1 Gianina Ravenscroft
00307200 D16-0492 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - 0 - - DA distal arthrogryposis; autosomal recessive inheritance 1 1 Gianina Ravenscroft
00307231 D18-0294 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - 0 - - FADS antenatal onset; distal arthrogryposis 2 1 Gianina Ravenscroft
00388639 Pat85 PubMed: Chakravorty 2020 - M - India India - 0 - - MYOP distal muscle weakness, proximal muscle weakness; CK level 587 IU/L; Rimmed vacuoles in muscle biopsies histochemistry; tripping on small objects, foot drop and sparing of quadriceps; most-affected muscles: Tibialis anterior, iliopsoas, adductors of thigh, hamstrings, and biceps brachi and first dorsal interosseous muscles; no cardiac involvement; 27y-ambulant 1 1 Johan den Dunnen
00399073 P148 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - 0 - - NMD serum CK <200 U/L; muscle biopsy myopathic changes; arthrogryposis multiplex congenital 1 1 Johan den Dunnen
00408102 207 PubMed: Alabdullatif 2017 - F yes United Arab Emirates - - 0 - - retinal disease 8 months old female infant was born at term via C-section due to breach presentation. Prenatally, reduced fetal movement and oligohydramnios were reported. At birth she was found to have overlapping fingers, rocker bottom feet, bilateral hip dislocation, and multiple joint contractures including hands, feet, elbows, knees, and hips. She also had developmental delay, atrial septal defect, and thin corpus callosum on head ultrasound. Her physical examination showed hypotonia, all growth parameters below the 5th percentile, and distinctive facial features (long smooth philtrum, thin lips, and low-set ears with fine simple helices). Her parents were cousins and she was their first child. 1 1 LOVD
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