Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication
Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
Remarks: remarks about the individual
Gender: gender individual
All options:
- ? = unknown
- - = not applicable
- F = female
- M = male
- rF = raised as female
- rM = raised as male
Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:
- ? = unknown
- - = not applicable
- no = non-consanguineous parents
- yes = consanguineous parents
Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:
- ? (unknown)
- - (not applicable)
- Afghanistan
- (Afghanistan)
- Albania
- (Albania)
- Algeria
- (Algeria)
- American Samoa
- (American Samoa)
- Andorra
- (Andorra)
- Angola
- (Angola)
- Anguilla
- (Anguilla)
- Antarctica
- (Antarctica)
- Antigua and Barbuda
- (Antigua and Barbuda)
- Argentina
- (Argentina)
- Armenia
- (Armenia)
- Aruba
- (Aruba)
- Australia
- (Australia)
- Austria
- (Austria)
- Azerbaijan
- (Azerbaijan)
- Bahamas
- (Bahamas)
- Bahrain
- (Bahrain)
- Bangladesh
- (Bangladesh)
- Barbados
- (Barbados)
- Belarus
- (Belarus)
- Belgium
- (Belgium)
- Belize
- (Belize)
- Benin
- (Benin)
- Bermuda
- (Bermuda)
- Bhutan
- (Bhutan)
- Bolivia
- (Bolivia)
- Bosnia and Herzegovina
- (Bosnia and Herzegovina)
- Botswana
- (Botswana)
- Bouvet Island
- (Bouvet Island)
- Brazil
- (Brazil)
- British Indian Ocean Territory
- (British Indian Ocean Territory)
- Brunei Darussalam
- (Brunei Darussalam)
- Bulgaria
- (Bulgaria)
- Burkina Faso
- (Burkina Faso)
- Burundi
- (Burundi)
- Cambodia
- (Cambodia)
- Cameroon
- (Cameroon)
- Canada
- (Canada)
- Cape Verde
- (Cape Verde)
- Cayman Islands
- (Cayman Islands)
- Central African Republic
- (Central African Republic)
- Central Europe
- Chad
- (Chad)
- Chile
- (Chile)
- China
- (China)
- Christmas Island
- (Christmas Island)
- Cocos (Keeling Islands)
- (Cocos (Keeling Islands))
- Colombia
- (Colombia)
- Comoros
- (Comoros)
- Congo
- (Congo)
- Cook Islands
- (Cook Islands)
- Costa Rica
- (Costa Rica)
- Cote D'Ivoire (Ivory Coast)
- (Cote D'Ivoire (Ivory Coast))
- Croatia (Hrvatska)
- (Croatia (Hrvatska))
- Cuba
- (Cuba)
- Cyprus
- (Cyprus)
- Czech Republic
- (Czech Republic)
- Denmark
- (Denmark)
- Djibouti
- (Djibouti)
- Dominica
- (Dominica)
- Dominican Republic
- (Dominican Republic)
- East Timor
- (East Timor)
- Ecuador
- (Ecuador)
- Egypt
- (Egypt)
- El Salvador
- (El Salvador)
- England
- (England)
- Equatorial Guinea
- (Equatorial Guinea)
- Eritrea
- (Eritrea)
- Estonia
- (Estonia)
- Ethiopia
- (Ethiopia)
- Falkland Islands (Malvinas)
- (Falkland Islands (Malvinas))
- Faroe Islands
- (Faroe Islands)
- Fiji
- (Fiji)
- Finland
- (Finland)
- France
- (France)
- Gabon
- (Gabon)
- Gambia
- (Gambia)
- Georgia
- (Georgia)
- Germany
- (Germany)
- Ghana
- (Ghana)
- Gibraltar
- (Gibraltar)
- Greece
- (Greece)
- Greenland
- (Greenland)
- Grenada
- (Grenada)
- Guadeloupe
- (Guadeloupe)
- Guam
- (Guam)
- Guatemala
- (Guatemala)
- Guiana, French
- (Guiana, French)
- Guinea
- (Guinea)
- Guinea-Bissau
- (Guinea-Bissau)
- Guyana
- (Guyana)
- Haiti
- (Haiti)
- Heard and McDonald Islands
- (Heard and McDonald Islands)
- Honduras
- (Honduras)
- Hong Kong
- (Hong Kong)
- Hungary
- (Hungary)
- Iceland
- (Iceland)
- India
- (India)
- Indonesia
- (Indonesia)
- Iran
- (Iran)
- Iraq
- (Iraq)
- Ireland
- (Ireland)
- Israel
- (Israel)
- Italy
- (Italy)
- Jamaica
- (Jamaica)
- Japan
- (Japan)
- Jordan
- (Jordan)
- Kazakhstan
- (Kazakhstan)
- Kenya
- (Kenya)
- Kiribati
- (Kiribati)
- Korea
- (Korea)
- Korea, North (People's Republic)
- (Korea, North (People's Republic))
- Korea, South (Republic)
- (Korea, South (Republic))
- Kosovo
- (Kosovo)
- Kuwait
- (Kuwait)
- Kyrgyzstan (Kyrgyz Republic)
- (Kyrgyzstan (Kyrgyz Republic))
- Laos
- (Laos)
- Latvia
- (Latvia)
- Lebanon
- (Lebanon)
- Lesotho
- (Lesotho)
- Liberia
- (Liberia)
- Libya
- (Libya)
- Liechtenstein
- (Liechtenstein)
- Lithuania
- (Lithuania)
- Luxembourg
- (Luxembourg)
- Macau
- (Macau)
- Macedonia
- (Macedonia)
- Madagascar
- (Madagascar)
- Malawi
- (Malawi)
- Malaysia
- (Malaysia)
- Maldives
- (Maldives)
- Mali
- (Mali)
- Mallorca
- (Mallorca)
- Malta
- (Malta)
- Marshall Islands
- (Marshall Islands)
- Martinique
- (Martinique)
- Mauritania
- (Mauritania)
- Mauritius
- (Mauritius)
- Mayotte
- (Mayotte)
- Mexico
- (Mexico)
- Micronesia
- (Micronesia)
- Moldova
- (Moldova)
- Monaco
- (Monaco)
- Mongolia
- (Mongolia)
- Montserrat
- (Montserrat)
- Morocco
- (Morocco)
- Mozambique
- (Mozambique)
- Myanmar
- (Myanmar)
- Namibia
- (Namibia)
- Nauru
- (Nauru)
- Nepal
- (Nepal)
- Netherlands
- (Netherlands)
- Netherlands Antilles
- (Netherlands Antilles)
- Neutral Zone (Saudia Arabia/Iraq)
- (Neutral Zone (Saudia Arabia/Iraq))
- New Caledonia
- (New Caledonia)
- New Zealand
- (New Zealand)
- Nicaragua
- (Nicaragua)
- Niger
- (Niger)
- Nigeria
- (Nigeria)
- Niue
- (Niue)
- Norfolk Island
- (Norfolk Island)
- Northern Ireland
- (Northern Ireland)
- Northern Mariana Islands
- (Northern Mariana Islands)
- Norway
- (Norway)
- Oman
- (Oman)
- Pakistan
- (Pakistan)
- Palau
- (Palau)
- Palestine
- (Palestine)
- Panama
- (Panama)
- Papua New Guinea
- (Papua New Guinea)
- Paraguay
- (Paraguay)
- Peru
- (Peru)
- Philippines
- (Philippines)
- Pitcairn
- (Pitcairn)
- Poland
- (Poland)
- Polynesia, French
- (Polynesia, French)
- Portugal
- (Portugal)
- Puerto Rico
- (Puerto Rico)
- Qatar
- (Qatar)
- Reunion
- (Reunion)
- Romania
- (Romania)
- Russia
- (Russia)
- Russian Federation
- (Russian Federation)
- Rwanda
- (Rwanda)
- S. Georgia and S. Sandwich Isls.
- (S. Georgia and S. Sandwich Isls.)
- Saint Kitts and Nevis
- (Saint Kitts and Nevis)
- Saint Lucia
- (Saint Lucia)
- Saint Vincent and The Grenadines
- (Saint Vincent and The Grenadines)
- Samoa
- (Samoa)
- San Marino
- (San Marino)
- Sao Tome and Principe
- (Sao Tome and Principe)
- Saudi Arabia
- (Saudi Arabia)
- Scotland
- (Scotland)
- Senegal
- (Senegal)
- Serbia
- (Serbia)
- Seychelles
- (Seychelles)
- Sierra Leone
- (Sierra Leone)
- Singapore
- (Singapore)
- Slovakia (Slovak Republic)
- (Slovakia (Slovak Republic))
- Slovenia
- (Slovenia)
- Solomon Islands
- (Solomon Islands)
- Somalia
- (Somalia)
- South Africa
- (South Africa)
- Southern Territories, French
- (Southern Territories, French)
- Soviet Union (former)
- (Soviet Union (former))
- Spain
- (Spain)
- Sri Lanka
- (Sri Lanka)
- St. Helena, Ascension and Tristan da
- Cunha
- (St. Helena, Ascension and Tristan da
- Cunha)
- St. Pierre and Miquelon
- (St. Pierre and Miquelon)
- Sudan
- (Sudan)
- Sudan, South
- (Sudan, South)
- Suriname
- (Suriname)
- Svalbard and Jan Mayen Islands
- (Svalbard and Jan Mayen Islands)
- Swaziland
- (Swaziland)
- Sweden
- (Sweden)
- Switzerland
- (Switzerland)
- Syria
- (Syria)
- Taiwan
- (Taiwan)
- Tajikistan
- (Tajikistan)
- Tanzania
- (Tanzania)
- Thailand
- (Thailand)
- Togo
- (Togo)
- Tokelau
- (Tokelau)
- Tonga
- (Tonga)
- Trinidad and Tobago
- (Trinidad and Tobago)
- Tunisia
- (Tunisia)
- Turkey
- (Turkey)
- Turkmenistan
- (Turkmenistan)
- Turks and Caicos Islands
- (Turks and Caicos Islands)
- Tuvalu
- (Tuvalu)
- Uganda
- (Uganda)
- Ukraine
- (Ukraine)
- United Arab Emirates
- (United Arab Emirates)
- United Kingdom (Great Britain)
- (United Kingdom (Great Britain))
- United States
- (United States)
- Uruguay
- (Uruguay)
- US Minor Outlying Islands
- (US Minor Outlying Islands)
- Uzbekistan
- (Uzbekistan)
- Vanuatu
- (Vanuatu)
- Vatican City State (Holy See)
- (Vatican City State (Holy See))
- Venezuela
- (Venezuela)
- Viet Nam
- (Viet Nam)
- Virgin Islands (British)
- (Virgin Islands (British))
- Virgin Islands (US)
- (Virgin Islands (US))
- Wales
- (Wales)
- Wallis and Futuna Islands
- (Wallis and Futuna Islands)
- Western Sahara
- (Western Sahara)
- Yemen
- (Yemen)
- Yugoslavia
- (Yugoslavia)
- Zaire
- (Zaire)
- Zambia
- (Zambia)
- Zimbabwe
- (Zimbabwe)
Population: population the individual (or ancestors) belongs to; e.g. African, white, gypsy, jew (Ashkenazi), Sardinian, etc.
Age at death: age at which the individual deceased (when applicable):
- 35y = 35 years
- >43y = still alive at 43y
- 04y08m = 4 years and 8 months
- 00y00m01d12h = 1 day and 12 hours
- 18y? = around 18 years
- 30y-40y = between 30 and 40 years
- >54y = older than 54
- ? = unknown
VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator.
NOTE: to get VIP status ask the curator.
Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)
Treatment: treatment of patient
Variants in genes: The individual has variants for this gene.
Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

 Individual ID
|

 ID_report
|

 Reference
|
 Remarks
|

 Gender
|

 Consanguinity
|

 Country
|

 Population
|

 Age at death
|

 VIP
|

 Data_av
|

 Treatment
|

 Disease
|

 Phenotype details
|

 Variants
|

 Panel size
|

 Owner
|
00248186 |
- |
PubMed: Lhota 2016 |
analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2 |
F |
no |
Czech Republic |
- |
- |
0 |
- |
- |
cancer, breast |
32y ductal breast cancer, subtype HER-2 |
1 |
1 |
Zdenek Kleibl |
00249663 |
Fam1-1 |
PubMed: Cortese 2019 |
2-generation family, 3 affected (3M), unaffected heterozygous carrier parents |
M |
- |
- |
- |
- |
0 |
- |
- |
ataxia |
peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) |
2 |
3 |
Johan den Dunnen |
00249664 |
Fam1-2 |
PubMed: Cortese 2019 |
- |
M |
- |
- |
- |
- |
0 |
- |
- |
ataxia |
peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential |
2 |
1 |
Johan den Dunnen |
00249665 |
Fam1-3 |
PubMed: Cortese 2019 |
- |
M |
- |
- |
- |
- |
0 |
- |
- |
ataxia |
peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; no cerebellar atrophy (-HP:0001272) |
2 |
1 |
Johan den Dunnen |
00249666 |
Fam2-1 |
PubMed: Cortese 2019 |
2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents |
M |
- |
- |
- |
- |
0 |
- |
- |
ataxia |
peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735) |
2 |
2 |
Johan den Dunnen |
00249667 |
Fam2-2 |
PubMed: Cortese 2019 |
- |
F |
- |
- |
- |
- |
0 |
- |
- |
ataxia |
peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); autonomic dysfunction (HP:0012332) (urinary urgency and retention); cough (HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) |
2 |
1 |
Johan den Dunnen |
00249668 |
Fam3-1 |
PubMed: Cortese 2019 |
2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents |
M |
- |
- |
- |
- |
0 |
- |
- |
ataxia |
peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; reduced compound motor action potential lower limbs; cerebellar atrophy (HP:0001272) |
1 |
2 |
Johan den Dunnen |
00249669 |
Fam3-2 |
PubMed: Cortese 2019 |
- |
F |
- |
- |
- |
- |
0 |
- |
- |
ataxia |
peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) |
2 |
1 |
Johan den Dunnen |
00249670 |
Fam4-2 |
PubMed: Cortese 2019 |
2-generation family, 2 affected (2M), unaffected heterozygous carrier parents |
M |
- |
- |
- |
- |
0 |
- |
- |
ataxia |
peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); autonomic dysfunction (HP:0012332) (fecal incontinence); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; reduced compound motor action potential lower limbs |
2 |
2 |
Johan den Dunnen |
00249671 |
Fam5a-1 |
PubMed: Cortese 2019 |
3-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents |
M |
- |
- |
- |
- |
0 |
- |
- |
ataxia |
peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) |
1 |
3 |
Johan den Dunnen |
00249672 |
Fam5a-2 |
PubMed: Cortese 2019 |
- |
F |
- |
- |
- |
- |
0 |
- |
- |
ataxia |
peripheral neuropathy (HP:0009830); no cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); no cerebellar atrophy (-HP:0001272) |
2 |
1 |
Johan den Dunnen |
00249673 |
Fam5b-2 |
PubMed: Cortese 2019 |
- |
M |
- |
- |
- |
- |
0 |
- |
- |
ataxia |
peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) |
2 |
1 |
Johan den Dunnen |
00249674 |
Fam6a-1 |
PubMed: Cortese 2019 |
3-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents |
F |
- |
- |
- |
- |
0 |
- |
- |
ataxia |
peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); reduced; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) |
2 |
3 |
Johan den Dunnen |
00249675 |
Fam6a-2 |
PubMed: Cortese 2019 |
- |
F |
- |
- |
- |
- |
0 |
- |
- |
ataxia |
peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) |
2 |
1 |
Johan den Dunnen |
00249676 |
Fam6b-1 |
PubMed: Cortese 2019 |
- |
M |
- |
- |
- |
- |
0 |
- |
- |
ataxia |
peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) |
2 |
1 |
Johan den Dunnen |
00249677 |
Fam7-1 |
PubMed: Cortese 2019 |
2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents |
F |
yes |
- |
- |
- |
0 |
- |
- |
ataxia |
peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); reduced; reduced sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) |
2 |
2 |
Johan den Dunnen |
00249678 |
Fam7-2 |
PubMed: Cortese 2019 |
- |
M |
yes |
- |
- |
- |
0 |
- |
- |
ataxia |
peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); reduced; reduced sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) |
1 |
1 |
Johan den Dunnen |
00249679 |
Fam8-2 |
PubMed: Cortese 2019 |
2-generation family, 2 affected (2F), unaffected heterozygous carrier parents |
F |
- |
- |
- |
- |
0 |
- |
- |
ataxia |
peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) |
1 |
2 |
Johan den Dunnen |
00249680 |
Fam8-3 |
PubMed: Cortese 2019 |
- |
F |
- |
- |
- |
- |
0 |
- |
- |
ataxia |
peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); autonomic dysfunction (HP:0012332) (abnormal pupil reactivity); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) |
2 |
1 |
Johan den Dunnen |
00249681 |
Fam9-1 |
PubMed: Cortese 2019 |
2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents |
M |
- |
- |
- |
- |
0 |
- |
- |
ataxia |
peripheral neuropathy (HP:0009830); no cerebellar dysfunction; vestibular areflexia (HP:0008568); autonomic dysfunction (HP:0012332) (erectile dysfunction); cough (HP:0012735); absent; reduced sensory action potentials lower limbs; normal compound motor action potential; |
2 |
2 |
Johan den Dunnen |
00249682 |
Fam9-2 |
PubMed: Cortese 2019 |
- |
F |
- |
- |
- |
- |
0 |
- |
- |
ataxia |
peripheral neuropathy (HP:0009830); no cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); reduced; reduced sensory action potentials lower limbs; normal compound motor action potential; no cerebellar atrophy (-HP:0001272) |
2 |
1 |
Johan den Dunnen |
00249683 |
Fam10-2 |
PubMed: Cortese 2019 |
2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents |
F |
- |
- |
- |
- |
0 |
- |
- |
ataxia |
peripheral neuropathy (HP:0009830); no cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); reduced; reduced sensory action potentials lower limbs; normal compound motor action potential |
2 |
2 |
Johan den Dunnen |
00249684 |
Fam10-1 |
PubMed: Cortese 2019 |
- |
M |
- |
- |
- |
- |
0 |
- |
- |
ataxia |
peripheral neuropathy (HP:0009830); no cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); reduced; absent sensory action potentials lower limbs; normal compound motor action potential |
1 |
1 |
Johan den Dunnen |
00249685 |
Fam11-2 |
PubMed: Cortese 2019 |
2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents |
F |
- |
- |
- |
- |
0 |
- |
- |
ataxia |
peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) |
2 |
2 |
Johan den Dunnen |
00249686 |
s1 |
PubMed: Cortese 2019 |
sporadic case |
M |
- |
- |
- |
- |
0 |
- |
- |
ataxia |
peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); autonomic dysfunction (HP:0012332) (erectile dysfunction); cough (HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) |
2 |
1 |
Johan den Dunnen |
00249687 |
s2 |
PubMed: Cortese 2019 |
sporadic case |
F |
- |
- |
- |
- |
0 |
- |
- |
ataxia |
peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); autonomic dysfunction (HP:0012332) (constipation, urinary incontinence, impaired regulation of blood pressure); cough (HP:0012735); reduced; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) |
2 |
1 |
Johan den Dunnen |
00249688 |
s3 |
PubMed: Cortese 2019 |
sporadic case |
M |
- |
- |
- |
- |
0 |
- |
- |
ataxia |
peripheral neuropathy (HP:0009830); no cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); absent; absent sensory action potentials lower limbs; reduced compound motor action potential lower limbs |
2 |
1 |
Johan den Dunnen |
00249689 |
s4 |
PubMed: Cortese 2019 |
sporadic case |
F |
- |
- |
- |
- |
0 |
- |
- |
ataxia |
peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); autonomic dysfunction (HP:0012332) (urinary retention); cough (HP:0012735); absent; absent sensory action potentials lower limbs; compound motor action potential patchy reduction of conduction velocities; cerebellar atrophy (HP:0001272) |
2 |
1 |
Johan den Dunnen |
00249690 |
s5 |
PubMed: Cortese 2019 |
sporadic case |
F |
- |
- |
- |
- |
0 |
- |
- |
ataxia |
peripheral neuropathy (HP:0009830); no cerebellar dysfunction; no vestibular areflexia (-HP:0008568); autonomic dysfunction (HP:0012332) (urinary urgency); cough (HP:0012735); reduced; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) |
2 |
1 |
Johan den Dunnen |
00249691 |
s6 |
PubMed: Cortese 2019 |
sporadic case |
M |
- |
- |
- |
- |
0 |
- |
- |
ataxia |
peripheral neuropathy (HP:0009830); no cerebellar dysfunction; no vestibular areflexia (-HP:0008568); autonomic dysfunction (HP:0012332) (constipation); no cough (-HP:0012735); reduced; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) |
2 |
1 |
Johan den Dunnen |
00249692 |
s7 |
PubMed: Cortese 2019 |
sporadic case |
F |
- |
- |
- |
- |
0 |
- |
- |
ataxia |
peripheral neuropathy (HP:0009830); no cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); absent; absent sensory action potentials lower limbs; reduced compound motor action potential lower limbs; cerebellar atrophy (HP:0001272) |
2 |
1 |
Johan den Dunnen |
00249693 |
s8 |
PubMed: Cortese 2019 |
sporadic case |
F |
- |
- |
- |
- |
0 |
- |
- |
ataxia |
peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; no cerebellar atrophy (-HP:0001272) |
2 |
1 |
Johan den Dunnen |
00249694 |
s9 |
PubMed: Cortese 2019 |
sporadic case |
M |
- |
- |
- |
- |
0 |
- |
- |
ataxia |
peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) |
2 |
1 |
Johan den Dunnen |
00249695 |
s10 |
PubMed: Cortese 2019 |
sporadic case |
M |
- |
- |
- |
- |
0 |
- |
- |
ataxia |
peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); absent; absent sensory action potentials lower limbs; reduced compound motor action potential lower limbs; cerebellar atrophy (HP:0001272) |
1 |
1 |
Johan den Dunnen |
00249696 |
s11 |
PubMed: Cortese 2019 |
sporadic case |
M |
- |
- |
- |
- |
0 |
- |
- |
ataxia |
peripheral neuropathy (HP:0009830); no cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735) |
2 |
1 |
Johan den Dunnen |
00249697 |
s12 |
PubMed: Cortese 2019 |
sporadic case |
M |
- |
- |
- |
- |
0 |
- |
- |
ataxia |
peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) |
2 |
1 |
Johan den Dunnen |
00249698 |
s13 |
PubMed: Cortese 2019 |
sporadic case |
F |
- |
- |
- |
- |
0 |
- |
- |
ataxia |
peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); autonomic dysfunction (HP:0012332) (urinary dysfunction); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; no cerebellar atrophy (-HP:0001272) |
2 |
1 |
Johan den Dunnen |
00249699 |
s14 |
PubMed: Cortese 2019 |
sporadic case |
F |
- |
- |
- |
- |
0 |
- |
- |
ataxia |
peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); autonomic dysfunction (HP:0012332) (urinary urgency, gastro-intestinal dysmotility); cough (HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) |
2 |
1 |
Johan den Dunnen |
00249700 |
s15 |
PubMed: Cortese 2019 |
sporadic case |
M |
- |
- |
- |
- |
0 |
- |
- |
ataxia |
peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; no cerebellar atrophy (-HP:0001272) |
2 |
1 |
Johan den Dunnen |
00249701 |
s16 |
PubMed: Cortese 2019 |
sporadic case |
F |
- |
- |
- |
- |
0 |
- |
- |
ataxia |
peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) |
2 |
1 |
Johan den Dunnen |
00249702 |
S17 |
PubMed: Cortese 2019 |
sporadic case |
M |
- |
- |
- |
- |
0 |
- |
- |
ataxia |
peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential |
1 |
1 |
Johan den Dunnen |
00249703 |
S18 |
PubMed: Cortese 2019 |
sporadic case |
M |
- |
- |
- |
- |
0 |
- |
- |
ataxia |
peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) |
1 |
1 |
Johan den Dunnen |
00249704 |
S19 |
PubMed: Cortese 2019 |
sporadic case |
M |
- |
- |
- |
- |
0 |
- |
- |
ataxia |
peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; reduced sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) |
1 |
1 |
Johan den Dunnen |
00249705 |
s20 |
PubMed: Cortese 2019 |
sporadic case |
F |
- |
- |
- |
- |
0 |
- |
- |
ataxia |
peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential |
1 |
1 |
Johan den Dunnen |
00249706 |
s21 |
PubMed: Cortese 2019 |
sporadic case |
F |
- |
- |
- |
- |
0 |
- |
- |
ataxia |
peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) |
1 |
1 |
Johan den Dunnen |
00249707 |
s22 |
PubMed: Cortese 2019 |
sporadic case |
F |
- |
- |
- |
- |
0 |
- |
- |
ataxia |
peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential |
1 |
1 |
Johan den Dunnen |
00249708 |
s23 |
PubMed: Cortese 2019 |
sporadic case |
F |
- |
- |
- |
- |
0 |
- |
- |
ataxia |
peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) |
1 |
1 |
Johan den Dunnen |
00249709 |
s24 |
PubMed: Cortese 2019 |
sporadic case |
M |
- |
- |
- |
- |
0 |
- |
- |
ataxia |
peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) |
1 |
1 |
Johan den Dunnen |
00249710 |
s25 |
PubMed: Cortese 2019 |
sporadic case |
M |
- |
- |
- |
- |
0 |
- |
- |
ataxia |
peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) |
1 |
1 |
Johan den Dunnen |
00249711 |
s26 |
PubMed: Cortese 2019 |
sporadic case |
F |
- |
- |
- |
- |
0 |
- |
- |
ataxia |
peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); reduced; absent sensory action potentials lower limbs; reduced compound motor action potential lower limbs; cerebellar atrophy (HP:0001272) |
1 |
1 |
Johan den Dunnen |
00249712 |
s27 |
PubMed: Cortese 2019 |
sporadic case |
F |
- |
- |
- |
- |
0 |
- |
- |
ataxia |
peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) |
1 |
1 |
Johan den Dunnen |
00249713 |
s28 |
PubMed: Cortese 2019 |
sporadic case |
F |
- |
- |
- |
- |
0 |
- |
- |
ataxia |
peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; reduced compound motor action potential lower limbs |
1 |
1 |
Johan den Dunnen |
00249714 |
s29 |
PubMed: Cortese 2019 |
sporadic case |
M |
- |
- |
- |
- |
0 |
- |
- |
ataxia |
peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); autonomic dysfunction (HP:0012332) (constipation, xeropthalmia); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) |
1 |
1 |
Johan den Dunnen |
00249715 |
s30 |
PubMed: Cortese 2019 |
sporadic case |
F |
- |
- |
- |
- |
0 |
- |
- |
ataxia |
peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential |
1 |
1 |
Johan den Dunnen |
00249716 |
s31 |
PubMed: Cortese 2019 |
sporadic case |
F |
- |
- |
- |
- |
0 |
- |
- |
ataxia |
peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735) |
1 |
1 |
Johan den Dunnen |
00249717 |
s32 |
PubMed: Cortese 2019 |
sporadic case |
F |
- |
- |
- |
- |
0 |
- |
- |
ataxia |
peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); autonomic dysfunction (HP:0012332) (abnormal blood pressure control, abnormal bowel motility); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) |
1 |
1 |
Johan den Dunnen |
00249718 |
s33 |
PubMed: Cortese 2019 |
sporadic case |
M |
- |
- |
- |
- |
0 |
- |
- |
ataxia |
peripheral neuropathy (HP:0009830); no cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; no cerebellar atrophy (-HP:0001272) |
1 |
1 |
Johan den Dunnen |
00249719 |
control |
PubMed: Cortese 2019 |
analysis 608 normal chromosome |
F;M |
- |
- |
- |
- |
0 |
- |
- |
Healthy/Control |
- |
1 |
79 |
Johan den Dunnen |
00249720 |
control |
PubMed: Cortese 2019 |
analysis 608 normal chromosome |
F;M |
- |
- |
- |
- |
0 |
- |
- |
Healthy/Control |
- |
1 |
48 |
Johan den Dunnen |
00249721 |
control |
PubMed: Cortese 2019 |
analysis 608 normal chromosome |
F;M |
- |
- |
- |
- |
0 |
- |
- |
Healthy/Control |
- |
1 |
4 |
Johan den Dunnen |
00249724 |
CANVAS1 |
PubMed: Rafehi 2019 |
2-generation family, 2 affected (2F), unaffected heterozygous carrier parents |
F |
- |
- |
Europe |
- |
0 |
- |
- |
ataxia |
- |
1 |
2 |
Johan den Dunnen |
00249725 |
CANVAS2 |
PubMed: Rafehi 2019 |
2-generation family, 2 affected (2M), unaffected heterozygous carrier parents |
M |
- |
- |
Europe |
- |
0 |
- |
- |
ataxia |
- |
1 |
2 |
Johan den Dunnen |
00249726 |
CANVAS3 |
PubMed: Rafehi 2019 |
2-generation family, 2 affected (2F), unaffected heterozygous carrier parents |
F |
- |
Cyprus |
Greece |
- |
0 |
- |
- |
ataxia |
- |
1 |
2 |
Johan den Dunnen |
00249727 |
CANVAS4 |
PubMed: Rafehi 2019 |
2-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents |
F;M |
- |
- |
- |
- |
0 |
- |
- |
ataxia |
- |
1 |
4 |
Johan den Dunnen |
00249728 |
CANVAS5 |
PubMed: Rafehi 2019 |
2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents |
F;M |
- |
Lithuania;Latvia |
- |
- |
0 |
- |
- |
ataxia |
- |
1 |
2 |
Johan den Dunnen |
00249729 |
CANVAS6 |
PubMed: Rafehi 2019 |
2-generation family, 2 affected (2M), unaffected heterozygous carrier parents |
M |
- |
- |
Europe |
- |
0 |
- |
- |
ataxia |
- |
1 |
1 |
Johan den Dunnen |
00249730 |
CANVAS7 |
PubMed: Rafehi 2019 |
- |
M |
- |
Australia |
Europe; Maori |
- |
0 |
- |
- |
ataxia |
- |
1 |
1 |
Johan den Dunnen |
00249731 |
CANVAS8 |
PubMed: Rafehi 2019 |
- |
F |
- |
- |
Europe |
- |
0 |
- |
- |
ataxia |
- |
1 |
1 |
Johan den Dunnen |
00249732 |
CANVAS9 |
PubMed: Rafehi 2019 |
2-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents |
F;M |
- |
Lebanon |
- |
- |
0 |
- |
- |
ataxia |
- |
1 |
4 |
Johan den Dunnen |
00249733 |
CANVAS10 |
PubMed: Rafehi 2019 |
- |
M |
- |
- |
Europe |
- |
0 |
- |
- |
ataxia |
- |
1 |
1 |
Johan den Dunnen |
00249735 |
CANVAS12 |
PubMed: Rafehi 2019 |
- |
M |
- |
Turkey |
- |
- |
0 |
- |
- |
ataxia |
- |
1 |
1 |
Johan den Dunnen |
00249737 |
CANVAS14 |
PubMed: Rafehi 2019 |
- |
M |
- |
- |
Europe |
- |
0 |
- |
- |
ataxia |
- |
1 |
1 |
Johan den Dunnen |
00249738 |
CANVAS16 |
PubMed: Rafehi 2019 |
- |
F |
- |
- |
Europe |
- |
0 |
- |
- |
ataxia |
- |
1 |
1 |
Johan den Dunnen |
00249740 |
CANVAS18 |
PubMed: Rafehi 2019 |
- |
F |
- |
Australia |
Europe; Maori |
- |
0 |
- |
- |
ataxia |
- |
1 |
1 |
Johan den Dunnen |
00249742 |
CANVAS20 |
PubMed: Rafehi 2019 |
3-generation family, 2 affected (F, M), unaffected heterozygous carrier parents |
F;M |
- |
Spain |
- |
- |
0 |
- |
- |
ataxia |
- |
1 |
2 |
Johan den Dunnen |
00249743 |
CANVAS21 |
PubMed: Rafehi 2019 |
- |
M |
- |
India |
- |
- |
0 |
- |
- |
ataxia |
- |
1 |
1 |
Johan den Dunnen |
00249744 |
CANVAS22 |
PubMed: Rafehi 2019 |
- |
M |
- |
Hungary |
- |
- |
0 |
- |
- |
ataxia |
- |
1 |
1 |
Johan den Dunnen |
00249745 |
CANVAS23 |
PubMed: Rafehi 2019 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
ataxia |
- |
1 |
1 |
Johan den Dunnen |
00334298 |
- |
Liu submitted, 2021 |
analysis 233 patients |
- |
- |
China |
- |
- |
- |
- |
- |
virus, COVID-19 |
hospitalized after COVID-19 infection, |
1 |
1 |
Liu Wenbing |
00334307 |
- |
Liu submitted, 2021 |
analysis 233 patients |
- |
- |
China |
- |
- |
- |
- |
- |
virus, COVID-19 |
hospitalized after COVID-19 infection, |
1 |
1 |
Liu Wenbing |
00334324 |
- |
Liu submitted, 2021 |
analysis 233 patients |
- |
- |
China |
- |
- |
- |
- |
- |
virus, COVID-19 |
hospitalized after COVID-19 infection, |
1 |
1 |
Liu Wenbing |
00334368 |
- |
Liu submitted, 2021 |
analysis 233 patients |
- |
- |
China |
- |
- |
- |
- |
- |
virus, COVID-19 |
hospitalized after COVID-19 infection, |
1 |
1 |
Liu Wenbing |
00334535 |
- |
Liu submitted, 2021 |
analysis 233 patients |
- |
- |
China |
- |
- |
- |
- |
- |
virus, COVID-19 |
hospitalized after COVID-19 infection, |
1 |
1 |
Liu Wenbing |
00334548 |
- |
Liu submitted, 2021 |
analysis 233 patients |
- |
- |
China |
- |
- |
- |
- |
- |
virus, COVID-19 |
hospitalized after COVID-19 infection, |
1 |
1 |
Liu Wenbing |
00334853 |
- |
Liu submitted, 2021 |
analysis 233 patients |
- |
- |
China |
- |
- |
- |
- |
- |
virus, COVID-19 |
hospitalized after COVID-19 infection, |
1 |
1 |
Liu Wenbing |
00334860 |
- |
Liu submitted, 2021 |
analysis 233 patients |
- |
- |
China |
- |
- |
- |
- |
- |
virus, COVID-19 |
hospitalized after COVID-19 infection, |
1 |
1 |
Liu Wenbing |
00335043 |
- |
Liu submitted, 2021 |
analysis 233 patients |
- |
- |
China |
- |
- |
- |
- |
- |
virus, COVID-19 |
hospitalized after COVID-19 infection, |
1 |
1 |
Liu Wenbing |