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:
- no = non-consanguineous parents
- yes = consanguineous parents
- likely = consanguinity likely
- ? = unknown
- - = not applicable
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. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, 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
|
 Genes screened
|
 Variants in genes
|

 Variants
|

 Panel size
|

 Owner
|
00151894 |
- |
PubMed: Parman 2004 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
neuropathy |
- |
MTMR2 |
MTMR2 |
1 |
1 |
Johan den Dunnen |
00151898 |
- |
PubMed: Bolino 2001 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
neuropathy |
- |
MTMR2 |
MTMR2 |
1 |
1 |
Johan den Dunnen |
00151901 |
- |
PubMed: Bolino 2001 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
neuropathy |
- |
MTMR2 |
MTMR2 |
1 |
1 |
Johan den Dunnen |
00151906 |
- |
PubMed: Marchesi 2010 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
neuropathy |
- |
PRX |
PRX |
1 |
1 |
Johan den Dunnen |
00151910 |
- |
PubMed: Marchesi 2010 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
neuropathy |
- |
PRX |
PRX |
1 |
1 |
Johan den Dunnen |
00151911 |
- |
PubMed: Marchesi 2010 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
neuropathy |
- |
PRX |
PRX |
1 |
1 |
Johan den Dunnen |
00151915 |
- |
PubMed: Marchesi 2010 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
neuropathy |
- |
PRX |
PRX |
1 |
1 |
Johan den Dunnen |
00151961 |
- |
PubMed: Shekarabi 2008 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
neuropathy |
- |
WNK1 |
WNK1 |
1 |
1 |
Johan den Dunnen |
00210539 |
- |
PubMed: Yum 2009 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
neuropathy |
- |
NEFL |
NEFL |
1 |
1 |
Johan den Dunnen |
00210622 |
- |
PubMed: Gess 2011 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
neuropathy |
- |
PMP22 |
PMP22 |
1 |
1 |
Johan den Dunnen |
00296522 |
Pat2 |
PubMed: Forrester 2020 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
neuropathy |
severe muscle weakness, slightly more marked in lower limbs and distally; ventilator-dependent; needle EMG widespread and severe neurogenic changes; nerve conduction study severe reduction compound muscle action potential, slowing motor conduction velocity, normal sensory nerve action potential |
GARS |
GARS |
1 |
1 |
Johan den Dunnen |
00296523 |
Pat1 |
PubMed: Forrester 2020 |
2-generation family, patient with affected heterozygous carrier daugther |
- |
- |
- |
- |
- |
- |
- |
- |
neuropathy |
distal weakness/wasting upper and lower limbs |
GARS |
GARS |
1 |
2 |
Johan den Dunnen |
00296524 |
Pat7 |
PubMed: Forrester 2020 |
patient and affected heterozygous carrier grand daughter |
- |
- |
- |
- |
- |
- |
- |
- |
neuropathy |
eeakness in fingers, brisk deep tendon reflexes in upper limbs/knee; wasting in feet, asymmetric foot deformity, tiptoeing in
childhood |
GARS |
GARS |
1 |
1 |
Johan den Dunnen |
00296525 |
Pat8 |
PubMed: Forrester 2020 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
neuropathy |
numbness in both hands; foot drop, wasting of tibialis anterior, weakness foot dorsiflexion; nerve conduction study prolonged distal motor latency, prolonged F waves, small motor responses common peroneal and posterior tibial nerves, mildly reduced conduction velocities common peroneal nerve, low normal or slightly small sensory nerve action potential |
GARS |
GARS |
1 |
1 |
Johan den Dunnen |
00296547 |
FamPatIII1/Pat3 |
PubMed: Boczonadi 2018, PubMed: Forrester 2020 |
3-generation family, affected grandmother, mother and son |
M |
- |
- |
- |
- |
- |
- |
- |
neuropathy |
typical clinical and electrophysiological signs of dHMN-V, upper limb predominant distal neuropathy since early twenties; upper limbs dorsal interosseous muscle atrophy, weak thumb/index finger; lower limbs ankle dorsi and plantar flexion weakness |
GARS |
GARS |
1 |
3 |
Johan den Dunnen |
00296553 |
Fam1PatII1 |
PubMed: Boczonadi 2018 |
mother |
F |
- |
- |
- |
- |
- |
- |
- |
neuropathy |
typical clinical and electrophysiological signs of dHMN-V, upper limb predominant distal neuropathy since early twenties |
GARS |
GARS |
1 |
1 |
Johan den Dunnen |
00296554 |
Fam/Fam2PatII1 |
PubMed: McMillan 2014, PubMed: Boczonadi 2018 |
2-generation family, affected female and heterozygous carrier parents |
F |
- |
Canada |
- |
- |
- |
- |
- |
neuropathy |
see paper; ..., 6y-developed non-compaction cardiomyopathy, exercise induced myalgia; white matter changes, increased lactate |
GARS |
GARS |
2 |
3 |
Johan den Dunnen |
00296555 |
Fam/Fam2father |
PubMed: McMillan 2014, PubMed: Boczonadi 2018 |
father |
M |
- |
Canada |
- |
- |
- |
- |
- |
neuropathy |
bilateral talipes, mild axonal neuropathy |
GARS |
GARS |
1 |
1 |
Johan den Dunnen |
00296557 |
GARS817G>A/Pat4 |
PubMed: Antoniadi 2015. PubMed: Forrester 2020 |
2-generation family, 1 affected, unaffected heterozygous carrier parents |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
neuropathy |
no upper limb weakness; lower limb pes cavus, tight Achilles tendon; chronic denervation in legs |
GARS |
GARS, PMP22 |
2 |
1 |
Johan den Dunnen |
00296558 |
Pat5 |
PubMed: Forrester 2020 |
5-generation family, 10 affected (2F, 8M) |
M |
- |
- |
- |
- |
- |
- |
- |
neuropathy |
upper limb weakness in muscles around thumb, lower limbs pes cavus, hammer toes, ankle jerks depressed |
GARS |
GARS |
1 |
10 |
Johan den Dunnen |
00296559 |
Pat6 |
PubMed: Forrester 2020 |
variant segregates in extensive family |
- |
- |
- |
- |
- |
- |
- |
- |
neuropathy |
upper limb weakness/wasting in small muscles of hands; lower limb pain and weakness in feet; nerve conduction study upper limb normal compound muscle action potential,mild/moderate slowing motor conduction velocity, normal sensory nerve action potential; nerve conduction study upper limb potentials absent motor conduction velocity, lower limit of normal sensory nerve action potential; needle EMG length-dependent denervation changes |
GARS |
GARS |
1 |
1 |
Johan den Dunnen |
00300026 |
Pat-SCN9A-a |
PubMed: Antoniadi 2015 |
analysis 448 inherited peripheral neuropathy cases |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
neuropathy |
- |
SCN9A |
SCN9A |
1 |
1 |
Johan den Dunnen |
00300032 |
- |
PubMed: Antoniadi 2015 |
analysis 448 inherited peripheral neuropathy cases |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
neuropathy |
- |
AARS |
AARS |
1 |
1 |
Johan den Dunnen |
00300044 |
- |
PubMed: Antoniadi 2015 |
analysis 448 inherited peripheral neuropathy cases |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
neuropathy |
- |
DYNC1H1 |
DYNC1H1 |
1 |
1 |
Johan den Dunnen |
00300048 |
Pat-GAN-a |
PubMed: Antoniadi 2015 |
analysis 448 inherited peripheral neuropathy cases |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
neuropathy |
- |
GAN |
GAN |
1 |
1 |
Johan den Dunnen |
00300057 |
- |
PubMed: Antoniadi 2015 |
analysis 448 inherited peripheral neuropathy cases |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
neuropathy |
- |
GJB1 |
GJB1 |
1 |
1 |
Johan den Dunnen |
00300058 |
- |
PubMed: Antoniadi 2015 |
analysis 448 inherited peripheral neuropathy cases |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
neuropathy |
- |
GJB1 |
GJB1 |
1 |
1 |
Johan den Dunnen |
00300067 |
- |
PubMed: Antoniadi 2015 |
analysis 448 inherited peripheral neuropathy cases |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
neuropathy |
- |
IGHMBP2 |
IGHMBP2 |
1 |
1 |
Johan den Dunnen |
00300068 |
- |
PubMed: Antoniadi 2015 |
analysis 448 inherited peripheral neuropathy cases |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
neuropathy |
- |
IGHMBP2 |
IGHMBP2 |
1 |
1 |
Johan den Dunnen |
00300080 |
- |
PubMed: Antoniadi 2015 |
analysis 448 inherited peripheral neuropathy cases |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
neuropathy |
- |
MPZ |
MPZ |
1 |
1 |
Johan den Dunnen |
00300095 |
Pat-SEPT9-a |
PubMed: Antoniadi 2015 |
analysis 448 inherited peripheral neuropathy cases |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
neuropathy |
- |
SEPT9 |
SEPT9 |
1 |
1 |
Johan den Dunnen |
00300108 |
Pat-SEPT9-b |
PubMed: Antoniadi 2015 |
analysis 448 inherited peripheral neuropathy cases |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
neuropathy |
- |
SEPT9 |
SEPT9 |
1 |
1 |
Johan den Dunnen |
00300110 |
Pat-GAN-b |
PubMed: Antoniadi 2015 |
analysis 448 inherited peripheral neuropathy cases |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
neuropathy |
- |
GAN |
GAN |
1 |
1 |
Johan den Dunnen |
00300114 |
Pat15 |
PubMed: Antoniadi 2015 |
analysis 448 inherited peripheral neuropathy cases |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
neuropathy |
- |
PMP22, SH3TC2 |
PMP22, SH3TC2 |
2 |
1 |
Johan den Dunnen |
00300126 |
Pat-SCN9A-b |
PubMed: Antoniadi 2015 |
analysis 448 inherited peripheral neuropathy cases |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
neuropathy |
- |
SCN9A |
SCN9A |
1 |
1 |
Johan den Dunnen |
00300132 |
Pat-AARS-b |
PubMed: Antoniadi 2015 |
analysis 448 inherited peripheral neuropathy cases |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
neuropathy |
- |
AARS |
AARS |
1 |
1 |
Johan den Dunnen |
00300142 |
Pat-AARS-c |
PubMed: Antoniadi 2015 |
analysis 448 inherited peripheral neuropathy cases |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
neuropathy |
- |
AARS |
AARS |
1 |
1 |
Johan den Dunnen |
00300152 |
Pat-AARS-d |
PubMed: Antoniadi 2015 |
analysis 448 inherited peripheral neuropathy cases |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
neuropathy |
- |
AARS |
AARS |
1 |
1 |
Johan den Dunnen |
00300155 |
Pat-AARS-e |
PubMed: Antoniadi 2015 |
analysis 448 inherited peripheral neuropathy cases |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
neuropathy |
- |
AARS |
AARS |
1 |
1 |
Johan den Dunnen |
00300159 |
Pat-MED25-g |
PubMed: Antoniadi 2015 |
analysis 448 inherited peripheral neuropathy cases |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
neuropathy |
- |
MED25 |
MED25 |
1 |
1 |
Johan den Dunnen |
00300437 |
- |
- |
- |
M |
? |
India |
- |
10y |
- |
- |
IVIg |
neuropathy, XLA;AGMX1 |
- |
BTK |
BTK |
1 |
1 |
Sneha Sawant Desai |
00301208 |
Fam1Case1 |
PubMed: Cortese 2020 |
Family, 2 affected |
F |
- |
United States |
white |
- |
- |
- |
- |
neuropathy |
mild severity; axonal motor NCS motor NCS |
SORD |
SORD |
1 |
2 |
Johan den Dunnen |
00301209 |
Fam1Case2 |
PubMed: Cortese 2020 |
- |
F |
- |
United States |
white |
- |
- |
- |
- |
neuropathy |
mild severity; axonal motor NCS |
SORD |
SORD |
1 |
1 |
Johan den Dunnen |
00301210 |
Fam2Case3 |
PubMed: Cortese 2020 |
no Family history |
M |
- |
Greece |
white |
- |
- |
- |
- |
neuropathy |
mild severity; axonal motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs absent; Rapid onset after flu-like syndrome, upper limb tremor |
SORD |
SORD |
2 |
1 |
Johan den Dunnen |
00301211 |
Fam3Case4 |
PubMed: Cortese 2020 |
no Family history |
M |
- |
France |
white |
- |
- |
- |
- |
neuropathy |
moderate severity; intermediate motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs reduced; upper limb tremor, mild hearing loss |
SORD |
SORD |
2 |
1 |
Johan den Dunnen |
00301212 |
Fam4Case5 |
PubMed: Cortese 2020 |
no Family history |
M |
- |
Netherlands |
white |
- |
- |
- |
- |
neuropathy |
mild severity; axonal motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs normal; muscle ache, raised CK up to 1200 IU, scapular winging |
SORD |
SORD |
1 |
1 |
Johan den Dunnen |
00301213 |
Fam5Case6 |
PubMed: Cortese 2020 |
no Family history |
M |
- |
United States |
white |
- |
- |
- |
- |
neuropathy |
mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal; upper limb tremor |
SORD |
SORD |
1 |
1 |
Johan den Dunnen |
00301214 |
Fam6Case7 |
PubMed: Cortese 2020 |
no Family history |
F |
- |
United States |
white |
- |
- |
- |
- |
neuropathy |
mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal |
SORD |
SORD |
1 |
1 |
Johan den Dunnen |
00301215 |
Fam7Case8 |
PubMed: Cortese 2020 |
Family history |
M |
- |
Iraq |
Middle Eastern |
- |
- |
- |
- |
neuropathy |
mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs reduced |
SORD |
SORD |
1 |
1 |
Johan den Dunnen |
00301216 |
Fam8Case9 |
PubMed: Cortese 2020 |
no Family history |
F |
- |
United States |
white |
- |
- |
- |
- |
neuropathy |
mild severity; intermediate motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal; rapid worsening |
SORD |
SORD |
1 |
1 |
Johan den Dunnen |
00301217 |
Fam9Case10 |
PubMed: Cortese 2020 |
no Family history |
M |
- |
United States |
white |
- |
- |
- |
- |
neuropathy |
mild severity; intermediate motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs normal; upper limb tremor |
SORD |
SORD |
1 |
1 |
Johan den Dunnen |
00301218 |
Fam10Case11 |
PubMed: Cortese 2020 |
no Family history |
F |
- |
United States |
white;African American |
- |
- |
- |
- |
neuropathy |
mild severity; intermediate motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs reduced |
SORD |
SORD |
1 |
1 |
Johan den Dunnen |
00301219 |
Fam11Case12 |
PubMed: Cortese 2020 |
no Family history |
M |
- |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
neuropathy |
mild severity; axonal motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs normal; stress fractures |
SORD |
SORD |
1 |
1 |
Johan den Dunnen |
00301220 |
Fam12Case13 |
PubMed: Cortese 2020 |
no Family history |
M |
- |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
neuropathy |
moderate severity; axonal motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs normal; Left peroneal nerve mononeuropathy |
SORD |
SORD |
1 |
1 |
Johan den Dunnen |
00301221 |
Fam13Case14 |
PubMed: Cortese 2020 |
no Family history |
M |
- |
Germany |
white |
- |
- |
- |
- |
neuropathy |
mild severity; axonal motor NCS; sensory NCS lower limbs normal; Complex ataxo-spastic syndrome entailing mental retardation (since age 3), coarse facial features, bulky stature |
SORD |
SORD |
1 |
1 |
Johan den Dunnen |
00301222 |
Fam14Case15II1 |
PubMed: Cortese 2020 |
Family, 2 affected |
M |
- |
Austria |
white |
- |
- |
- |
- |
neuropathy |
moderate severity; intermediate motor NCS; sensory NCS upper limbs reducedl; upper limb distal weakness and tremor |
SORD |
SORD |
2 |
2 |
Johan den Dunnen |
00301223 |
Fam14Case16II2 |
PubMed: Cortese 2020 |
- |
F |
- |
Austria |
white |
- |
- |
- |
- |
neuropathy |
mild severity; intermediate motor NCS; sensory NCS upper limbs reducedl |
SORD |
SORD |
2 |
1 |
Johan den Dunnen |
00301224 |
Fam15Case17 |
PubMed: Cortese 2020 |
no Family history |
F |
- |
Egypt |
Middle Eastern, Bedouin |
- |
- |
- |
- |
neuropathy |
mild severity; axonal motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs reduced; upper limb tremor |
SORD |
SORD |
1 |
1 |
Johan den Dunnen |
00301225 |
Fam16Case18 |
PubMed: Cortese 2020 |
no Family history |
M |
- |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
neuropathy |
mild severity; axonal motor NCS; sensory NCS upper limbs absent, sensory NCS lower limbs normal |
SORD |
SORD |
1 |
1 |
Johan den Dunnen |
00301226 |
Fam17Case19 |
PubMed: Cortese 2020 |
no Family history |
M |
- |
Singapore |
East Asian |
- |
- |
- |
- |
neuropathy |
moderate severity; axonal motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs normal |
SORD |
SORD |
1 |
1 |
Johan den Dunnen |
00301227 |
Fam18Case20II2 |
PubMed: Cortese 2020 |
Family, 2 affected |
F |
- |
Egypt |
Middle Eastern |
- |
- |
- |
- |
neuropathy |
moderate severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs absent; burning pain in hands and feet |
SORD |
SORD |
1 |
2 |
Johan den Dunnen |
00301228 |
Fam18Case21II3 |
PubMed: Cortese 2020 |
- |
M |
- |
Egypt |
Middle Eastern |
- |
- |
- |
- |
neuropathy |
moderate severity; intermediate motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs absent |
SORD |
SORD |
1 |
1 |
Johan den Dunnen |
00301229 |
Fam19Case22I1 |
PubMed: Cortese 2020 |
Family, 3 affected |
M |
- |
Egypt |
Middle Eastern |
- |
- |
- |
- |
neuropathy |
severe severity |
SORD |
SORD |
1 |
3 |
Johan den Dunnen |
00301230 |
Fam19Case23II2 |
PubMed: Cortese 2020 |
- |
M |
- |
Egypt |
Middle Eastern |
- |
- |
- |
- |
neuropathy |
moderate severity |
SORD |
SORD |
1 |
1 |
Johan den Dunnen |
00301231 |
Fam19Case24II3 |
PubMed: Cortese 2020 |
- |
M |
- |
Egypt |
Middle Eastern |
- |
- |
- |
- |
neuropathy |
mild severity |
SORD |
SORD |
1 |
1 |
Johan den Dunnen |
00301232 |
Fam20Case25II3 |
PubMed: Cortese 2020 |
Family history |
M |
- |
Kuwait |
Middle Eastern |
- |
- |
- |
- |
neuropathy |
mild severity; intermediate motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs reduced |
SORD |
SORD |
1 |
1 |
Johan den Dunnen |
00301233 |
Fam21Case26 |
PubMed: Cortese 2020 |
no Family history |
F |
- |
Italy |
white |
- |
- |
- |
- |
neuropathy |
moderate severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs reduced |
SORD |
SORD |
1 |
1 |
Johan den Dunnen |
00301234 |
Fam22Case27 |
PubMed: Cortese 2020 |
Family history |
M |
- |
Italy |
white |
- |
- |
- |
- |
neuropathy |
mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal |
SORD |
SORD |
1 |
1 |
Johan den Dunnen |
00301235 |
Fam23Case28II1 |
PubMed: Cortese 2020 |
Family, 2 affected |
M |
- |
Italy |
white |
- |
- |
- |
- |
neuropathy |
mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal; epilepsy, vascular encephalopathy, upper limb tremor, scoliosis. Has a normal sural nerve biopsy |
SORD |
SORD |
1 |
2 |
Johan den Dunnen |
00301236 |
Fam23Case29II2 |
PubMed: Cortese 2020 |
- |
F |
- |
Italy |
white |
- |
- |
- |
- |
neuropathy |
mild severity; axonal motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs reduced |
SORD |
SORD |
1 |
1 |
Johan den Dunnen |
00301237 |
Fam24Case30 |
PubMed: Cortese 2020 |
no Family history |
F |
- |
Italy |
white |
- |
- |
- |
- |
neuropathy |
moderate severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal; brisk reflexes |
SORD |
SORD |
1 |
1 |
Johan den Dunnen |
00301238 |
Fam25Case31 |
PubMed: Cortese 2020 |
no Family history |
M |
- |
Italy |
white |
- |
- |
- |
- |
neuropathy |
mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal |
SORD |
SORD |
1 |
1 |
Johan den Dunnen |
00301239 |
Fam26Case32 |
PubMed: Cortese 2020 |
no Family history |
M |
- |
Italy |
white |
- |
- |
- |
- |
neuropathy |
moderate severity; axonal motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs normal; split hand |
SORD |
SORD |
1 |
1 |
Johan den Dunnen |
00301240 |
Fam27Case33 |
PubMed: Cortese 2020 |
no Family history |
M |
- |
Italy |
white |
- |
- |
- |
- |
neuropathy |
moderate severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal; scoliosis, raised CK |
SORD |
SORD |
1 |
1 |
Johan den Dunnen |
00301241 |
Fam28Case34 |
PubMed: Cortese 2020 |
Family, 2 affected |
F |
- |
Italy |
white |
- |
- |
- |
- |
neuropathy |
mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal; brisk reflexes |
SORD |
SORD |
1 |
2 |
Johan den Dunnen |
00301242 |
Fam28Case35 |
PubMed: Cortese 2020 |
- |
F |
- |
Italy |
white |
- |
- |
- |
- |
neuropathy |
mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal; brisk reflexes |
SORD |
SORD |
1 |
1 |
Johan den Dunnen |
00301243 |
Fam29Case36 |
PubMed: Cortese 2020 |
no Family history |
M |
- |
Italy |
white |
- |
- |
- |
- |
neuropathy |
moderate severity; axonal motor NCS; sensory NCS upper limbs absent, sensory NCS lower limbs absent; scoliosis |
SORD |
SORD |
2 |
1 |
Johan den Dunnen |
00301244 |
Fam30Case37 |
PubMed: Cortese 2020 |
no Family history |
M |
- |
Italy |
white |
- |
- |
- |
- |
neuropathy |
mild severity; intermediate motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs absent |
SORD |
SORD |
2 |
1 |
Johan den Dunnen |
00301245 |
Fam31Case38 |
PubMed: Cortese 2020 |
no Family history |
M |
- |
Italy |
white |
- |
- |
- |
- |
neuropathy |
moderate severity; intermediate motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs absent; scoliosis |
SORD |
SORD |
1 |
1 |
Johan den Dunnen |
00301246 |
Fam32Case39 |
PubMed: Cortese 2020 |
no Family history |
M |
- |
Italy |
white |
- |
- |
- |
- |
neuropathy |
mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal; raised CK |
SORD |
SORD |
2 |
1 |
Johan den Dunnen |
00301247 |
Fam33Case40 |
PubMed: Cortese 2020 |
no Family history |
M |
- |
Italy |
white |
- |
- |
- |
- |
neuropathy |
moderate severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs reduced; mild hearing loss |
SORD |
SORD |
2 |
1 |
Johan den Dunnen |
00301248 |
Fam34Case41 |
PubMed: Cortese 2020 |
no Family history |
M |
- |
United States |
white |
- |
- |
- |
- |
neuropathy |
mild severity; intermediate motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal |
SORD |
SORD |
1 |
1 |
Johan den Dunnen |
00301249 |
Fam35Case42 |
PubMed: Cortese 2020 |
no Family history |
M |
- |
United States |
Native American (Alaska);white |
- |
- |
- |
- |
neuropathy |
mild severity; axonal motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs normal |
SORD |
SORD |
1 |
1 |
Johan den Dunnen |
00301250 |
Fam36Case43 |
PubMed: Cortese 2020 |
sporadic |
M |
- |
China |
Chinese, Han |
- |
- |
- |
- |
neuropathy |
mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal |
SORD |
SORD |
1 |
1 |
Johan den Dunnen |
00301251 |
Fam37Case44 |
PubMed: Cortese 2020 |
sporadic |
M |
- |
China |
Chinese, Han |
- |
- |
- |
- |
neuropathy |
mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs reduced |
SORD |
SORD |
1 |
1 |
Johan den Dunnen |
00301252 |
Fam38Case45 |
PubMed: Cortese 2020 |
sporadic |
M |
- |
China |
Chinese, Han |
- |
- |
- |
- |
neuropathy |
mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs reduced |
SORD |
SORD |
1 |
1 |
Johan den Dunnen |
00302579 |
TF108_1 |
- |
- |
F |
yes |
Jordan |
- |
- |
- |
- |
- |
neuropathy |
developmental delay |
- |
TAF1C |
1 |
1 |
Tawfiq Froukh |
00305348 |
155552 |
- |
- |
F |
? |
Germany |
- |
- |
- |
- |
- |
neuropathy |
Distal hereditary motor neuropathy; Motor polyneuropathy |
DSP |
DSP |
1 |
1 |
Andreas Laner |
00372581 |
1-1 |
PubMed: Holling 2022 |
- |
F |
no |
India |
- |
- |
- |
- |
- |
neuropathy |
- |
- |
SLC5A6 |
1 |
3 |
Tess Holling |
00372582 |
1-2 |
PubMed: Holling 2022 |
- |
F |
no |
India |
- |
- |
- |
- |
- |
neuropathy |
- |
- |
SLC5A6 |
1 |
1 |
Tess Holling |
00372583 |
1-3 |
PubMed: Holling 2022 |
- |
M |
no |
India |
- |
- |
- |
- |
- |
neuropathy |
- |
- |
SLC5A6 |
1 |
1 |
Tess Holling |
00372584 |
2-1 |
PubMed: Holling 2022 |
- |
F |
no |
United States |
- |
- |
- |
- |
- |
neuropathy |
- |
- |
SLC5A6 |
2 |
1 |
Tess Holling |
00384980 |
- |
PubMed: Holling 2022 |
- |
F |
no |
India |
- |
- |
- |
- |
- |
neuropathy |
- |
- |
SLC5A6 |
1 |
1 |
Tess Holling |
00446735 |
- |
- |
- |
F |
- |
Germany |
- |
- |
- |
- |
- |
neuropathy |
- |
GDAP1, GJB1, HINT1, HSPB1, HSPB8, MFN2, MPZ, PMP22, SBF2, SH3TC2, SORD |
SBF2 |
1 |
1 |
Gemeinschaftspraxis für Humangenetik Dresden |
00460001 |
Pat1 |
PubMed: Chung 2020 |
2-generation family, 1 affected, unaffected non carrier parents |
- |
- |
United States |
- |
19y |
- |
- |
- |
neuropathy |
see paper; ..., 19y-deceased; progressive neuropathy; no inflammatory response; very-long-chain fatty acid normal; normal to abnormal white matter demyelination; decreased sensorimotor polyneuropathy; normal to decreased cognition; ataxia; chronic axon loss |
- |
ACOX1 |
1 |
1 |
Johan den Dunnen |
00460002 |
Pat2 |
PubMed: Chung 2020 |
2-generation family, 1 affected, unaffected non carrier parents |
- |
- |
- |
- |
- |
- |
- |
- |
neuropathy |
see paper; ..., 15y-coma; progressive neuropathy; no inflammatory response; very-long-chain fatty acid normal; normal to abnormal white matter demyelination; decreased sensorimotor polyneuropathy; normal to decreased cognition; ataxia; ongoing and chronic axon loss |
- |
ACOX1 |
1 |
1 |
Johan den Dunnen |
00460003 |
Pat3 |
PubMed: Chung 2020 |
2-generation family, 1 affected, unaffected non carrier parents |
- |
- |
- |
- |
- |
- |
- |
- |
neuropathy |
see paper; ..., 19y-deceased; progressive neuropathy; no inflammatory response; very-long-chain fatty acid normal; normal to abnormal white matter demyelination; decreased sensorimotor polyneuropathy; decreased cognition; ataxia; ongoing and chronic axon loss |
- |
ACOX1 |
1 |
1 |
Johan den Dunnen |