All individuals with variants in gene SAR1B

30 entries on 1 page. Showing entries 1 - 30.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00050575 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? intellectual disability, seizures 1 1 Johan den Dunnen
00445297 - - - - - - - - - - - CMRD - 2 1 Guido Neidhardt
00445343 Fam1PatII1 PubMed: Jones 2003 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - Algeria - - - - - CMRD see paper; ..., failure to thrive in infancy 1 2 Johan den Dunnen
00445344 Fam1PatII2 PubMed: Jones 2003 sister F - Algeria - - - - - CMRD see paper; ..., failure to thrive in infancy 1 1 Johan den Dunnen
00445345 Fam2PatII1 PubMed: Jones 2003 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M - Canada white - - - - CMRD see paper; ..., failure to thrive in infancy 1 2 Johan den Dunnen
00445346 Fam2PatII2 PubMed: Jones 2003 sister F - Canada white - - - - CMRD see paper; ..., failure to thrive in infancy 1 1 Johan den Dunnen
00445347 Fam3PatII1 PubMed: Jones 2003 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Canada white - - - - CMRD see paper; ..., failure to thrive in infancy 2 1 Johan den Dunnen
00445348 Fam4PatII1 PubMed: Jones 2003 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Canada white - - - - CMRD see paper; ..., failure to thrive in infancy 1 1 Johan den Dunnen
00445349 Fam5PatII1 PubMed: Jones 2003 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M - Turkey - - - - - CMRD see paper; ..., failure to thrive in infancy 1 2 Johan den Dunnen
00445350 Fam5PatII2 PubMed: Jones 2003 sister F - Turkey - - - - - CMRD see paper; ..., failure to thrive in infancy 1 1 Johan den Dunnen
00445351 Fam6PatII1 PubMed: Jones 2003, PubMed: Annesi 2007 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents; segregation of two diseases M - Italy - - - - - CMRD, MSS see paper; ..., cataracts, ataxia, delayed growth, mental retardation, see paper; ..., failure to thrive in infancy 1 2 Johan den Dunnen
00445352 Fam6PatII2 PubMed: Jones 2003, PubMed: Annesi 2007 brother M - Italy - - - - - CMRD, MSS see paper; ..., cataracts, ataxia, delayed growth, mental retardation, see paper; ..., failure to thrive in infancy 1 1 Johan den Dunnen
00445353 Fam7PatII1 PubMed: Jones 2003 - - - Pakistan - - - - - CMRD see paper; ..., failure to thrive in infancy 2 1 Johan den Dunnen
00445354 Fam8PatII1 PubMed: Jones 2003 2-generation family, 1 affected, unaffected heterozygous carrier parents (1st cousins) F yes Algeria - - - - - CMRD see paper; ..., chronic diarrhoea, weight loss 1 1 Johan den Dunnen
00445355 controls PubMed: Jones 2003 - F;M - United Kingdom (Great Britain) - - - - - Healthy/Control - 1 1 Johan den Dunnen
00445356 FamIPat1 PubMed: Charcosset 2008 2-generation family, 2 affected, unaffected heterozygous parents F - Algeria - - - - - CMRD see paper; ..., diarrhea, no vomiting; no hepatic signs; tendon reflexes present (upper/lower limbs) 1 2 Johan den Dunnen
00445357 FamIPat2 PubMed: Charcosset 2008 brother M - Algeria - - - - - CMRD see paper; ..., diarrhea, no vomiting; no hepatic signs; tendon reflexes present (upper/lower limbs) 1 1 Johan den Dunnen
00445358 FamIIPat1 PubMed: Charcosset 2008 2-generation family, 4 affected, unaffected heterozygous parents M - Turkey - - - - - CMRD see paper; ..., diarrhea, vomiting; no hepatic signs; tendon reflexes present (upper/lower limbs) 1 4 Johan den Dunnen
00445359 FamIIPat2 PubMed: Charcosset 2008 sister F - Turkey - - - - - CMRD see paper; ..., diarrhea, no vomiting; no hepatic signs; tendon reflexes present (upper/lower limbs) 1 1 Johan den Dunnen
00445360 FamIIPat3 PubMed: Charcosset 2008 sister F - Turkey - - - - - CMRD see paper; ..., diarrhea, no vomiting; no hepatic signs; tendon reflexes present (upper/lower limbs) 1 1 Johan den Dunnen
00445361 FamIIPat4 PubMed: Charcosset 2008 brother M - Turkey - - - - - CMRD see paper; ..., diarrhea, no vomiting; no hepatic signs; tendon reflexes upper limbs decreased, lower limbs absent 1 1 Johan den Dunnen
00445362 FamIIIPat1 PubMed: Charcosset 2008 2-generation family, 2 affected, unaffected heterozygous parents M - Canada French-Canadian - - - - CMRD see paper; ..., diarrhea, no vomiting; no hepatic signs; tendon reflexes present (upper/lower limbs) 1 2 Johan den Dunnen
00445363 FamIIIPat2 PubMed: Charcosset 2008 brother M - Canada French-Canadian - - - - CMRD see paper; ..., diarrhea, no vomiting; no hepatic signs; tendon reflexes present (upper/lower limbs) 1 1 Johan den Dunnen
00445364 FamIVPat1 PubMed: Charcosset 2008 2-generation family, 1 affected, unaffected heterozygous parents F - Canada French-Canadian - - - - CMRD see paper; ..., diarrhea, vomiting; no hepatic signs; tendon reflexes present (upper/lower limbs) 1 1 Johan den Dunnen
00445365 FamVPat1 PubMed: Charcosset 2008 2-generation family, 2 affected, unaffected heterozygous parents F - Canada French-Canadian - - - - CMRD see paper; ..., no diarrhea, vomiting; hepatic signs HM; tendon reflexes present (upper/lower limbs) 2 2 Johan den Dunnen
00445366 FamVPat2 PubMed: Charcosset 2008 brother M - Canada French-Canadian - - - - CMRD see paper; ..., no diarrhea, vomiting; no hepatic signs; tendon reflexes present (upper/lower limbs) 2 1 Johan den Dunnen
00445367 FamVIPat1 PubMed: Charcosset 2008 2-generation family, 2 affected, unaffected heterozygous parents F - Canada French-Canadian - - - - CMRD see paper; ..., no diarrhea, no vomiting; no hepatic signs; tendon reflexes present (upper/lower limbs) 1 2 Johan den Dunnen
00445368 FamVIPat2 PubMed: Charcosset 2008 brother M - Canada French-Canadian - - - - CMRD see paper; ..., diarrhea, vomiting; no hepatic signs; tendon reflexes present (upper/lower limbs) 1 1 Johan den Dunnen
00445369 FamVIIPat1 PubMed: Charcosset 2008 2-generation family, 1 affected, unaffected heterozygous parents F - Canada French-Canadian - - - - CMRD see paper; ..., no diarrhea, vomiting; no hepatic signs; tendon reflexes present (upper/lower limbs) 1 1 Johan den Dunnen
00445370 FamVIIIPat1 PubMed: Charcosset 2008 2-generation family, 1 affected, unaffected heterozygous parents F - Portugal - - - - - CMRD see paper; ..., diarrhea, no vomiting; no hepatic signs; tendon reflexes upper limbs quick, lower limbs decreased 1 1 Johan den Dunnen
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.