All individuals with variants in gene TMEM67

31 entries on 1 page. Showing entries 1 - 31.
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00000031 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00028915 - - - - - - - - 0 - - JBTS-1 - 1 1 Sanne Savelberg
00028949 - - - - - - - - 0 - - JBTS-1 - 2 1 Sanne Savelberg
00028950 - - - - - - - - 0 - - JBTS-1 - 2 1 Sanne Savelberg
00028951 - - - - - - - - 0 - - JBTS-1 - 2 1 Sanne Savelberg
00028952 - - - - - - - - 0 - - JBTS-1 - 2 1 Sanne Savelberg
00056058 - PubMed: Watson 2016, Journal: Watson 2016 - - - United Kingdom (Great Britain) - - 0 - - MKS-1 Meckel-Gruber syndrome 1 1 Christopher Watson
00056059 - PubMed: Watson 2016, Journal: Watson 2016 - - - United Kingdom (Great Britain) - - 0 - - MKS-1 Meckel-Gruber syndrome 2 1 Christopher Watson
00056060 - PubMed: Watson 2016, Journal: Watson 2016 - - - United Kingdom (Great Britain) - - 0 - - MKS-1 Meckel-Gruber syndrome 1 1 Christopher Watson
00056061 - PubMed: Watson 2016, Journal: Watson 2016 - - - United Kingdom (Great Britain) - - 0 - - MKS-1 Meckel-Gruber syndrome 1 1 Christopher Watson
00056062 - PubMed: Watson 2016, Journal: Watson 2016 - - - United Kingdom (Great Britain) - - 0 - - MKS-1 Meckel-Gruber syndrome 2 1 Christopher Watson
00092243 - PubMed: Tarailo-Graovac 2016, Journal: Tarailo-Graovac 2016 2-generation family, 1 affected, unaffected heterozygous carrier mother/father unknown M - United States - - 0 - - MKS-3 mild IDD, adolescent-onset dementia, vertical gaze palsy, ataxia, ADHD, cerebellar atrophy at age 8y (molar tooth sign at age 22y, after diagnosis established), hepatosplenomegaly,progressive hepatic fibrosis, portal hypertension,; lysosomal storage disease phenotype 1 1 Johan den Dunnen
00155014 FamPatII1 PubMed: Di Rocco 1997, PubMed: Brancati 2018, Journal: Brancati 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M - Italy - - 0 - - RHYNS see paper; ... 2 1 Francesco Brancati
00225722 23169490-FamMKS_F6 PubMed: Shaheen 2013 - - - Saudi Arabia - - 0 - - MKS see paper; ... 1 1 Johan den Dunnen
00265632 - - - M no Viet Nam;(Viet Nam) Asian - 0 yes - JBTS-1 HP:0001263 HP:0001251 HP:0001249 HP:0002553 HP:0000508 HP:0000657 HP:0002793 HP:0001252 HP:0001320 HP:0100951 HP:0002419 HP:0000007 2 2 Minh Tuan Huynh
00269120 - - - ? - - - - 0 - - ? Enlarged kidneys (HP:0000105); Abnormality of the myocardium (HP:0001637); Tricuspid atresia (HP:0011662); Oligohydramnios (HP:0001562); Encephalocele (HP:0002084) 1 1 Andreas Laner
00269773 Fam3 PubMed: Tsurusaki 2013 2-generation family, 1 affected M - Japan - - 0 - - JBTS see paper; ... 2 1 Johan den Dunnen
00294678 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 87 Mohammed Faruq
00294680 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 137 Mohammed Faruq
00294681 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00294682 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00294684 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00305208 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00309639 FamilyPat501 PubMed: Khan 2016 5-generation family, 8 affected (5F, 3M), unaffected heterozygous carrier parents/relatives F yes Pakistan - - 0 - - retinal disease see paper; ... 1 8 Johan den Dunnen
00309640 FamilyPat502 PubMed: Khan 2016 - M yes Pakistan - - 0 - - retinal disease see paper; ... 1 1 Johan den Dunnen
00309641 FamilyPat503 PubMed: Khan 2016 - M yes Pakistan - - 0 - - retinal disease see paper; ... 1 1 Johan den Dunnen
00309642 FamilyPat505 PubMed: Khan 2016 - F yes Pakistan - - 0 - - retinal disease see paper; ... 1 1 Johan den Dunnen
00309643 FamilyPat507 PubMed: Khan 2016 - F yes Pakistan - - 0 - - retinal disease see paper; ... 1 1 Johan den Dunnen
00309645 FamilyPat509 PubMed: Khan 2016 - M yes Pakistan - - 0 - - retinal disease see paper; ... 1 1 Johan den Dunnen
00318001 PKMR151 PubMed: Riazuddin 2017 - - yes Pakistan - - 0 - - ID Severe ID, speech delay. epilepsy, motor weakness 1 1 Johan den Dunnen
00319923 PKMR61b PubMed: Riazuddin 2017 - - - Pakistan Punjabi - 0 - - ID intellectual disability, physically weak, deafness and speech problem 1 1 Johan den Dunnen
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