Global Variome shared LOVD
PRPS1 (phosphoribosyl pyrophosphate synthetase 1)
LOVD v.3.0 Build 29 [
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Curator:
Global Variome, with Curator vacancy
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View all variants affecting transcripts
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View all variants in gene PRPS1
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View all individuals with variants in gene PRPS1
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View all diseases associated with gene PRPS1
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View available phenotype columns
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View all screenings for gene PRPS1
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All individuals with variants in gene PRPS1
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.
How to query this table
All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.
Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
all entries containing 'Arg' or 'Ser'
!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
all entries not exactly matching 'p.0?'
combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.
57 entries on 1 page. Showing entries 1 - 57.
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Legend
How to query
Individual ID
ID_report
Reference
Remarks
Gender
Consanguinity
Country
Population
Age at death
VIP
Data_av
Treatment
Disease
Phenotype details
Variants
Panel size
Owner
00000208
-
PubMed: Sun 2011
,
Journal: Sun 2011
-
M
no
Netherlands
-
-
-
-
-
CHTE
central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)
1
1
Yu Sun
00000209
-
PubMed: Sun 2011
,
Journal: Sun 2011
-
M
no
Netherlands
-
-
-
-
-
CHTE
central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)
1
1
Yu Sun
00151970
-
PubMed: Kim 2007
-
-
-
-
-
-
-
-
-
CMT
-
1
1
Johan den Dunnen
00151971
-
PubMed: Becker 1995
-
-
-
-
-
-
-
-
-
superactivity, phosphoribosylpyrophosphate synthetase
-
1
1
Johan den Dunnen
00151972
-
PubMed: Liu 2010
-
-
-
-
-
-
-
-
-
deafness
-
1
1
Johan den Dunnen
00151973
-
PubMed: Liu 2010
-
-
-
-
-
-
-
-
-
deafness
-
1
1
Johan den Dunnen
00151974
-
PubMed: Robusto 2015
3-generation family with two affected male siblings and 2 obligate female carriers.
M
no
Italy
-
-
-
-
-
deafness
post-lingual, bilateral, progressive deafness, normal speech development, received bilateral cochlear implants
1
1
Giulia Soldà
00151975
-
PubMed: Robusto 2015
3-generation family with 4 affected males and 3 obligate carrier females. The carrier females show a milder phenotype.
M
no
Italy
-
-
-
-
-
deafness
post-lingual progressive bilateral hearing impairment, characterized by down-sloping audiometric profile, with moderate HL at low and middle frequencie, severe hearing impairment at higher frequencies; neurological evaluation displayed sign and symptoms of peripheral neuropathy, with both sensory and motor deficits
1
1
Giulia Soldà
00151976
-
PubMed: Roessler 1991
-
-
-
-
-
-
-
-
-
superactivity, phosphoribosylpyrophosphate synthetase
-
1
1
Johan den Dunnen
00151977
-
PubMed: Kim 2007
-
-
-
-
-
-
-
-
-
CMT
-
1
1
Johan den Dunnen
00151978
-
PubMed: Becker 1995
-
-
-
-
-
-
-
-
-
superactivity, phosphoribosylpyrophosphate synthetase
-
1
1
Johan den Dunnen
00151979
-
PubMed: de Brouwer 2007
-
-
-
-
-
-
-
-
-
superactivity, phosphoribosylpyrophosphate synthetase
-
1
1
Johan den Dunnen
00151980
-
PubMed: de Brouwer 2007
-
-
-
-
-
-
-
-
-
superactivity, phosphoribosylpyrophosphate synthetase
-
1
1
Johan den Dunnen
00151981
-
PubMed: Roessler 1991
-
-
-
-
-
-
-
-
-
superactivity, phosphoribosylpyrophosphate synthetase
-
1
1
Johan den Dunnen
00151982
-
PubMed: Becker 1995
-
-
-
-
-
-
-
-
-
superactivity, phosphoribosylpyrophosphate synthetase
-
1
1
Johan den Dunnen
00151983
-
PubMed: Garcia-Pavia 2003
-
-
-
-
-
-
-
-
-
superactivity, phosphoribosylpyrophosphate synthetase
-
1
1
Johan den Dunnen
00151984
-
PubMed: Becker 1995
-
-
-
-
-
-
-
-
-
superactivity, phosphoribosylpyrophosphate synthetase
-
1
1
Johan den Dunnen
00151985
-
PubMed: Robusto 2015
3-generation family with two affected males and 2 obligate female carriers (DNA of 1st generation not available). The carrier females show a milder phenotype.
M
no
Peru
-
-
-
-
-
deafness
post-lingual progressive bilateral hearing impairment, characterized by down-sloping audiometric profile, with moderate HL at low and middle frequencies and a severe hearing impairment at higher frequencies; neurological evaluation displayed sign and symptoms of mildly symptomatic peripheral neuropathy, with prevalent sensory involvement (i.e. Romberg positivity, absent deep tendon reflexes; showed chronic denervation at EMG evaluation, and mild axonal neuropathy affecting only motor nerves
1
1
Giulia Soldà
00151986
-
PubMed: Liu 2010
-
-
-
-
-
-
-
-
-
deafness
-
1
1
Johan den Dunnen
00151987
-
PubMed: Liu 2010
-
-
-
-
-
-
-
-
-
deafness
-
1
1
Johan den Dunnen
00172476
19377476-Pat?
PubMed: Tarpey 2009
-
M
-
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
MRX;IDX
-
1
1
Lucy Raymond
00172477
19377476-Pat?
PubMed: Tarpey 2009
-
M
-
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
MRX;IDX
-
1
1
Lucy Raymond
00207340
-
-
-
M
no
France
-
35y
-
-
-
CMTX5
sensori-motor neuropathy since the age of 8 profound bilateral hearing loss bilateral optic neuropathy
1
1
Justine Lerat
00266239
-
Mercati et al 2019 submitted
-
M
-
-
-
-
-
-
-
CMTX5
-
1
1
Laurence Jonard
00266240
-
Mercati et al 2019 submitted
-
M
no
Turkey
-
-
-
-
-
CMTX5
hearing loss, epilepsy, peripheral neuropathy, severe IUGR
1
1
Laurence Jonard
00266241
-
Mercati et al 2019 submitted
-
M
-
-
-
-
-
-
-
DFNX1
-
1
1
Laurence Jonard
00285730
-
PubMed: Almoguera 2014
-
-
-
-
-
-
-
-
-
retinal disease
-
1
1
Global Variome, with Curator vacancy
00285731
-
PubMed: Kim 1993
,
PubMed: Bird 1993
,
PubMed: Kim 2007
-
-
-
-
-
-
-
-
-
?
-
1
1
Global Variome, with Curator vacancy
00285732
-
PubMed: Zoref 1975
,
PubMed: Becker 1995
,
PubMed: de Brouwer 1993
,
PubMed: Chen 2013
-
-
-
-
-
-
-
-
-
?
-
1
1
Global Variome, with Curator vacancy
00285733
-
PubMed: Liu 2010
,
PubMed: Shearer 1993
,
PubMed: Liu 1993
-
-
-
-
-
-
-
-
-
deafness
-
1
1
Global Variome, with Curator vacancy
00285734
-
PubMed: Liu 2010
,
PubMed: Shearer 1993
,
PubMed: Tyson 1996
,
PubMed: Liu 1993
-
-
-
-
-
-
-
-
-
deafness
-
1
1
Global Variome, with Curator vacancy
00285735
-
PubMed: de Brouwer 1993
-
-
-
-
-
-
-
-
-
ARTS;MRXS18
-
1
1
Global Variome, with Curator vacancy
00285736
-
PubMed: Shearer 1993
,
PubMed: Robusto 2015
,
PubMed: Liu 1993
-
-
-
-
-
-
-
-
-
HL
-
1
1
Global Variome, with Curator vacancy
00285737
-
PubMed: Roessler 1993
,
PubMed: Becker 1995
,
PubMed: de Brouwer 1993
,
PubMed: Becker 1986
,
PubMed: Roessler 1991
-
-
-
-
-
-
-
-
-
?
-
1
1
Global Variome, with Curator vacancy
00285738
-
PubMed: Shearer 1993
,
PubMed: Robusto 2015
,
PubMed: Bird 1993
,
PubMed: Kim 1993
,
PubMed: Liu 1993
-
-
-
-
-
-
-
-
-
HL
peripheral neuropathy
1
1
Global Variome, with Curator vacancy
00285739
-
PubMed: Kim 1993
,
PubMed: Bird 1993
,
PubMed: Kim 2007
-
-
-
-
-
-
-
-
-
CMT
-
1
1
Global Variome, with Curator vacancy
00285740
-
PubMed: Park 2013
,
PubMed: Kim 1993
,
PubMed: Bird 1993
-
-
-
-
-
-
-
-
-
CMT
-
1
1
Global Variome, with Curator vacancy
00285741
-
PubMed: Becker 1995
,
PubMed: de Brouwer 1993
-
-
-
-
-
-
-
-
-
?
-
1
1
Global Variome, with Curator vacancy
00285742
-
PubMed: de Brouwer 1993
,
PubMed: de Brouwer 2007
-
-
-
-
-
-
-
-
-
?
-
1
1
Global Variome, with Curator vacancy
00285743
-
PubMed: Moran 2012
,
PubMed: de Brouwer 1993
-
-
-
-
-
-
-
-
-
?
recurrent infections
1
1
Global Variome, with Curator vacancy
00285744
-
PubMed: de Brouwer 1993
,
PubMed: Arts 1993
,
PubMed: de Brouwer 2007
-
-
-
-
-
-
-
-
-
?
-
1
1
Global Variome, with Curator vacancy
00285745
-
PubMed: Roessler 1993
,
PubMed: Becker 1980
,
PubMed: de Brouwer 1993
,
PubMed: Becker 1995
,
PubMed: Roessler 1991
-
-
-
-
-
-
-
-
-
?
-
1
1
Global Variome, with Curator vacancy
00285746
-
PubMed: Becker 1995
,
PubMed: de Brouwer 1993
-
-
-
-
-
-
-
-
-
?
-
1
1
Global Variome, with Curator vacancy
00285747
-
PubMed: García-Pavía 2003
-
-
-
-
-
-
-
-
-
?
-
1
1
Global Variome, with Curator vacancy
00285748
-
PubMed: Becker 1995
,
PubMed: de Brouwer 1993
-
-
-
-
-
-
-
-
-
?
-
1
1
Global Variome, with Curator vacancy
00285749
-
PubMed: Al-Maawali 2015
-
-
-
-
-
-
-
-
-
?
-
1
1
Global Variome, with Curator vacancy
00285750
-
PubMed: Synofzik 2014
-
-
-
-
-
-
-
-
-
CMT
arts syndrome
1
1
Global Variome, with Curator vacancy
00285751
-
PubMed: Liu 2010
,
PubMed: Shearer 1993
,
PubMed: Cui 2004
,
PubMed: Liu 1993
-
-
-
-
-
-
-
-
-
deafness
-
1
1
Global Variome, with Curator vacancy
00285752
-
PubMed: Liu 2010
,
PubMed: Shearer 1993
,
PubMed: Manolis 1999
,
PubMed: Liu 1993
-
-
-
-
-
-
-
-
-
deafness
-
1
1
Global Variome, with Curator vacancy
00285753
-
PubMed: Robusto 2015
,
PubMed: Kim 1993
,
PubMed: Bird 1993
-
-
-
-
-
-
-
-
-
HL
peripheral neuropathy
1
1
Global Variome, with Curator vacancy
00307646
patient
PubMed: Puusepp 2020
,
Journal: Puusepp 2020
2-generation family, 1 affected, unaffected heterozygous carrier females
M
no
Estonia
-
-
-
-
-
ARTS;MRXS18
-
1
1
Sander Pajusalu
00314403
-
PubMed: Topf 2020
analysis 1001 patients with unexplained limb-girdle weakness
-
-
-
-
-
-
-
-
LGMD
-
1
1
Johan den Dunnen
00314404
-
PubMed: Topf 2020
analysis 1001 patients with unexplained limb-girdle weakness
-
-
-
-
-
-
-
-
LGMD
-
1
1
Johan den Dunnen
00388583
OFTALMO.097
PubMed: Dineiro 2020
-
?
-
Spain
-
-
-
-
-
retinal disease
Pretest syndrome
1
1
LOVD
00395955
P1
PubMed: Georgiou 2021
pedigree ID: 20175, genetic ID: 35460
F
-
(United Kingdom (Great Britain))
-
-
-
-
-
retinal disease
-
1
1
LOVD
00396454
FamPatIV1
PubMed: Shirakawa 2021
4-generation family, 1 affected, unaffected heterozygous carrier mother
M
-
Japan
-
>33y
-
-
-
CMT
see paper; congenital bilateral hearing loss (HP:0000365), delayed ability to walk (HP:0031936); 11y-reduced visual acuity (HP:0007663); normal intelligence (-HP:0001249), difficulty grasping chopstick, difficulty writing, wheelchair-bound (HP:0006957); bilateral optic atrophy (HP:0000648); claw hand (HP:0001171), pes cavus (HP:0001761), distal muscle weakness (HP:0002460), hypesthesia, muscular atrophy hands/legs (HP:0009055), impaired vibration sensation ankles (HP:0006938), reduced tendon reflexes (HP:0001315), highly elevated creatine kinase (HP:0030234), sensory neuropathy (HP:0000763), ...
1
1
Yvet den Hartog
00408941
IV
PubMed: Lerat-2019
-
M
-
France
French
-
-
-
-
retinal disease
optic neuropathy, balance disorder, profound hearing loss
1
1
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