All individuals with variants in gene APC2

10 entries on 1 page. Showing entries 1 - 10.
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     
00266208 Fam1PatIII1/2 PubMed: Lee 2019 3-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes Egypt - - - - - ? see paper; …, lissencephaly, subcortical heterotopia, global developmental delay 1 2 Johan den Dunnen
00266209 Fam2PatIII1 PubMed: Lee 2019 3-generation family, 1 affected, unaffected heterozygous carrier parents M yes Egypt - - - - - ? see paper; …, lissencephaly, subcortical heterotopia, global developmental delay 1 1 Johan den Dunnen
00266210 Fam3PatIII1/3 PubMed: Lee 2019 3-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M yes Egypt - - - - - ? see paper; …, lissencephaly, subcortical heterotopia, global developmental delay 1 2 Johan den Dunnen
00266211 Fam4PatIII1 PubMed: Lee 2019 3-generation family, 1 affected, unaffected heterozygous carrier parents F yes Iran - - - - - ? see paper; …, lissencephaly, subcortical heterotopia, global developmental delay 1 1 Johan den Dunnen
00266212 Fam5PatIII1 PubMed: Lee 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M no United States - - - - - ? see paper; …, lissencephaly, subcortical heterotopia, global developmental delay 2 1 Johan den Dunnen
00266213 Fam6PatIII1/2 PubMed: Lee 2019 3-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M yes Turkey - - - - - ? see paper; …, lissencephaly, subcortical heterotopia, global developmental delay 1 2 Johan den Dunnen
00266214 Fam7PatIII3/4 PubMed: Lee 2019 3-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M yes Syria - - - - - ? see paper; …, lissencephaly, subcortical heterotopia, global developmental delay 1 2 Johan den Dunnen
00266215 Fam8PatIV1 PubMed: Lee 2019 4-generation family, 1 affected, unaffected heterozygous carrier parents F yes Egypt - - - - - ? see paper; …, lissencephaly, subcortical heterotopia, global developmental delay 1 1 Johan den Dunnen
00269478 - PubMed: Minardi 2020 - - - Italy - - - - - EE Epileptic encephalopathy (HP:0200134) 2 1 Francesca Bisulli
00296740 CIC03778;FamPatII2 PubMed: Mejecase 2018 3-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives F yes France North Africa - - - - retinal disease 26y-night blindness; 30y-diagnosis rod-cone dystrophy, best corrected visual acuity 20/63 both eyes with optimized myopic optical correction (R −6 (−2)0, L −8(−2)0), ERG full field undetectable, severe generalized photoreceptor dysfunction; 40y-catarct surgery both eyes; 55y-BVCA R 20/500, L 20/320, severe dyschromatopsia, bilateral severe visual field constriction 15 degrees at the binocular III4e test, funds coarse pigment migrations, atrophic changes macula, widespread alterations posterior pole and peripheral retina, patchy loss autofluorescence macula, severe thinning outer nuclear layer both eyes, loss hyper reflective outer retinal bands, hyper reflective material present above retinal pigment epithelium/Bruch’s membrane complex 1 3 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.