All individuals with variants in gene OPA1

679 entries on 7 pages. Showing entries 1 - 100.
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Phenotype details     

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Owner     
00036419 - - - - - Germany - - 0 - - OPA langsam progressive Optikusatrophiesince the 20 year of life, father and grand-father also affected 1 1 Andreas Laner
00036420 - - - - - Germany - - 0 - - ? since age of 10 progressive decline of visus; family history on the mother´s side partially positive; pituitary adenoma 1 1 Andreas Laner
00036421 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036422 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036423 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036424 - - - - - Germany - - 0 - - ? suspected mitochondriopathy 1 1 Andreas Laner
00036425 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036426 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036427 - - - - - Germany - - 0 - - OPA Optikusatrophie bilateral; since age of ten years ""weak"" eyes 1 1 Andreas Laner
00036428 - - - - - Germany - - 0 - - OPA optic atrophy, autosomal dominant 1 1 Andreas Laner
00036429 - - - - - Germany - - 0 - - OPA Optikusatrophie, suspected hereditery cause 1 1 Andreas Laner
00036430 - - - - - Germany - - 0 - - OPA suspected autosomal-dominante Optikusatrophie, 4 generations (m/w) affected, Index affected preschool age 1 1 Andreas Laner
00036431 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036432 - - - - - Germany - - 0 - - OPA suspected hereditary Optikusatrophie, Visusminderung bilateral 1 1 Andreas Laner
00036433 - - - - - Germany - - 0 - - OPA familial optic atrophy 1 1 Andreas Laner
00036434 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036435 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036436 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036437 - - - - - Germany - - 0 - - OPA Optikusatrophie;father also affected 1 1 Andreas Laner
00036438 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036439 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036440 - - - - - Germany - - 0 - - OPA suspected autosomal-dominante Optikusatrophie 1 1 Andreas Laner
00054871 - - - - - - - - 0 - - SCA-5 ataxia, neuropathy, cataract 1 1 Erik-Jan Kamsteeg
00054875 - - - - - - - - 0 - - SPG-18 pure HSP 1 1 Erik-Jan Kamsteeg
00080840 - Trujillano et al., submitted unaffected non-carrier parents - - - - - 0 - - OPA autosomal dominant optic atrophy 1 1 Daniel Trujillano
00103965 113952 - - F ? Germany - - 0 - - OPA found in combination with truncating variant in OPA1 which explains phenotype (optic atrophy) in this patient, optic atrophy (according to referring physician no signs of a neuropathy, optic atrophy only phenotype) 1 1 Andreas Laner
00105018 - PubMed: de Castro-Miró 2016 - F no Argentina - - 0 - - OA-1 - 1 1 Marta de Castro-Miró
00105424 - PubMed: Alexander 2000 - - - United Kingdom (Great Britain) - - 0 - - OPA autosomal dominant optic atrophy 1 1 Marc Ferre
00105425 - PubMed: Baris 2003 - - - France - - 0 - - OPA autosomal dominant optic atrophy 1 1 Marc Ferre
00105426 - PubMed: Baris 2003 - - - France - - 0 - - OPA autosomal dominant optic atrophy 1 1 Marc Ferre
00105427 - PubMed: Baris 2003 - - - France - - 0 - - OPA autosomal dominant optic atrophy 1 1 Marc Ferre
00105428 - PubMed: Baris 2003 - - - France - - 0 - - OPA autosomal dominant optic atrophy 1 1 Marc Ferre
00105429 - PubMed: Baris 2003 - - - France - - 0 - - OPA autosomal dominant optic atrophy 1 1 Marc Ferre
00105430 - PubMed: Delettre 2001 - - - France - - 0 - - OPA autosomal dominant optic atrophy 1 1 Marc Ferre
00105431 - PubMed: Baris 2003 - - - France - - 0 - - OPA autosomal dominant optic atrophy 1 1 Marc Ferre
00105432 - PubMed: Baris 2003 - - - France - - 0 - - OPA autosomal dominant optic atrophy 1 1 Marc Ferre
00105433 - PubMed: Baris 2003 - - - France - - 0 - - OPA autosomal dominant optic atrophy 1 1 Marc Ferre
00105434 - PubMed: Baris 2003 - - - France - - 0 - - OPA autosomal dominant optic atrophy 1 1 Marc Ferre
00105435 - PubMed: Baris 2003 - - - France - - 0 - - OPA autosomal dominant optic atrophy 1 1 Marc Ferre
00105436 - PubMed: Baris 2003 - - - France - - 0 - - OPA autosomal dominant optic atrophy 1 1 Marc Ferre
00105437 - PubMed: Baris 2003 - - - France - - 0 - - OPA autosomal dominant optic atrophy 1 1 Marc Ferre
00105438 - PubMed: Baris 2003 - - - France - - 0 - - OPA autosomal dominant optic atrophy 1 1 Marc Ferre
00105439 - PubMed: Delettre 2000 - - - France - - 0 - - OPA autosomal dominant optic atrophy 1 1 Marc Ferre
00105440 - PubMed: Baris 2003 - - - France - - 0 - - OPA autosomal dominant optic atrophy 1 1 Marc Ferre
00105441 - PubMed: Delettre 2000 - - - France - - 0 - - OPA autosomal dominant optic atrophy 1 1 Marc Ferre
00105442 - PubMed: Delettre 2000 - - - France - - 0 - - OPA autosomal dominant optic atrophy 1 1 Marc Ferre
00105443 - PubMed: Alexander 2000 - - - Cuba - - 0 - - OPA autosomal dominant optic atrophy 1 1 Marc Ferre
00105444 - PubMed: Alexander 2000 - - - United Kingdom (Great Britain) - - 0 - - OPA autosomal dominant optic atrophy 1 1 Marc Ferre
00105445 - PubMed: Alexander 2000 - - - United Kingdom (Great Britain) - - 0 - - OPA autosomal dominant optic atrophy 1 1 Marc Ferre
00105446 - PubMed: Alexander 2000 - - - Germany - - 0 - - OPA autosomal dominant optic atrophy 1 1 Marc Ferre
00105447 - PubMed: Alexander 2000 - - - Germany - - 0 - - OPA autosomal dominant optic atrophy 1 1 Marc Ferre
00105448 - PubMed: Alexander 2000 - - - United Kingdom (Great Britain) - - 0 - - OPA autosomal dominant optic atrophy 1 1 Marc Ferre
00105449 - PubMed: Toomes 2001 - - - - - - 0 - - OPA autosomal dominant optic atrophy 1 1 Marc Ferre
00105450 - PubMed: Toomes 2001 - - - - - - 0 - - OPA autosomal dominant optic atrophy 1 1 Marc Ferre
00105451 - PubMed: Toomes 2001 - - - - - - 0 - - OPA autosomal dominant optic atrophy 1 1 Marc Ferre
00105452 - PubMed: Toomes 2001 - - - - - - 0 - - OPA autosomal dominant optic atrophy 1 1 Marc Ferre
00105453 - PubMed: Toomes 2001 - - - - - - 0 - - OPA autosomal dominant optic atrophy 1 1 Marc Ferre
00105454 - PubMed: Toomes 2001 - - - - - - 0 - - OPA autosomal dominant optic atrophy 1 1 Marc Ferre
00105455 - PubMed: Toomes 2001 - - - - - - 0 - - OPA autosomal dominant optic atrophy 1 1 Marc Ferre
00105456 - PubMed: Toomes 2001 - - - - - - 0 - - OPA autosomal dominant optic atrophy 1 1 Marc Ferre
00105457 - PubMed: Toomes 2001 - - - - - - 0 - - OPA autosomal dominant optic atrophy 1 1 Marc Ferre
00105458 - PubMed: Toomes 2001 - - - - - - 0 - - OPA autosomal dominant optic atrophy 1 1 Marc Ferre
00105459 - PubMed: Toomes 2001 - - - - - - 0 - - OPA autosomal dominant optic atrophy 1 1 Marc Ferre
00105460 - PubMed: Toomes 2001 - - - - - - 0 - - OPA autosomal dominant optic atrophy 1 1 Marc Ferre
00105461 - PubMed: Toomes 2001 - - - - - - 0 - - OPA autosomal dominant optic atrophy 1 1 Marc Ferre
00105462 - PubMed: Toomes 2001 - - - - - - 0 - - OPA autosomal dominant optic atrophy 1 1 Marc Ferre
00105463 - PubMed: Delettre 2000 - - - - - - 0 - - OPA autosomal dominant optic atrophy 1 1 Marc Ferre
00105464 - PubMed: Pesch 2001 - - - - - - 0 - - ? - 1 1 Marc Ferre
00105465 - PubMed: Toomes 2001 - - - - - - 0 - - ? - 1 1 Marc Ferre
00105466 - PubMed: Toomes 2001 - - - - - - 0 - - ? - 1 1 Marc Ferre
00105467 - PubMed: Toomes 2001 - - - - - - 0 - - ? - 1 1 Marc Ferre
00105468 - PubMed: Thiselton 2002 - - - - - - 0 - - ? - 1 1 Marc Ferre
00105469 - PubMed: Toomes 2001 - - - - - - 0 - - ? - 1 1 Marc Ferre
00105470 - PubMed: Delettre 2001 - - - - - - 0 - - ? - 1 1 Marc Ferre
00105471 - PubMed: Pesch 2001 - - - - - - 0 - - ? - 1 1 Marc Ferre
00105472 - PubMed: Thiselton 2002 - - - - - - 0 - - ? - 1 1 Marc Ferre
00105473 - PubMed: Toomes 2001 - - - - - - 0 - - ? - 1 1 Marc Ferre
00105474 - PubMed: Toomes 2001 - - - - - - 0 - - ? - 1 1 Marc Ferre
00105475 - PubMed: Thiselton 2002 - - - - - - 0 - - ? - 1 1 Marc Ferre
00105476 - PubMed: Delettre 2001 - - - - - - 0 - - ? - 1 1 Marc Ferre
00105477 - PubMed: Thiselton 2002 - - - - - - 0 - - ? - 1 1 Marc Ferre
00105478 - PubMed: Pesch 2001 - - - - - - 0 - - ? - 1 1 Marc Ferre
00105479 - PubMed: Delettre 2001 - - - - - - 0 - - ? - 1 1 Marc Ferre
00105480 - PubMed: Toomes 2001 - - - - - - 0 - - ? - 1 1 Marc Ferre
00105481 - PubMed: Pesch 2001 - - - - - - 0 - - ? - 1 1 Marc Ferre
00105482 - PubMed: Toomes 2001 - - - - - - 0 - - ? - 1 1 Marc Ferre
00105483 - PubMed: Delettre 2001 - - - - - - 0 - - ? - 1 1 Marc Ferre
00105484 - PubMed: Delettre 2001 - - - - - - 0 - - ? - 1 1 Marc Ferre
00105485 - PubMed: Toomes 2001 - - - - - - 0 - - ? - 1 1 Marc Ferre
00105486 - PubMed: Delettre 2001 - - - - - - 0 - - ? - 1 1 Marc Ferre
00105487 - PubMed: Delettre 2001 - - - - - - 0 - - ? - 1 1 Marc Ferre
00105488 - PubMed: Delettre 2001 - - - - - - 0 - - ? - 1 1 Marc Ferre
00105489 - PubMed: Delettre 2001 - - - - - - 0 - - ? - 1 1 Marc Ferre
00105490 - PubMed: Thiselton 2002 - - - - - - 0 - - ? - 1 1 Marc Ferre
00105491 - PubMed: Thiselton 2002 - - - - - - 0 - - ? - 1 1 Marc Ferre
00105492 - PubMed: Toomes 2001 - - - - - - 0 - - ? - 1 1 Marc Ferre
00105493 - PubMed: Delettre 2001 - - - - - - 0 - - ? - 1 1 Marc Ferre
00105494 - PubMed: Thiselton 2002 - - - - - - 0 - - ? - 1 1 Marc Ferre
00105495 - PubMed: Toomes 2001 - - - - - - 0 - - ? - 1 1 Marc Ferre
00105496 - PubMed: Thiselton 2002 - - - United Kingdom (Great Britain) - - 0 - - OPA autosomal dominant optic atrophy 1 1 Marc Ferre
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