All individuals with variants in gene C10orf2

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.

34 entries on 1 page. Showing entries 1 - 34.

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
00003014	Pat6mov	PubMed: Neveling 2013	-	-	-	-	-	-	-	-	-	MTDPS7	Complicated Ataxie	1	1	Marcel Nelen
00037297	-	-	-	-	-	Germany	-	-	-	-	-	CPEO	CPEO	1	1	Andreas Laner
00037298	-	-	-	-	-	Germany	-	-	-	-	-	KSS	Kearns-Sayre-Syndrom/CPEO	1	1	Andreas Laner
00037299	-	-	-	-	-	Germany	-	-	-	-	-	CPEO	CPEO	1	1	Andreas Laner
00037300	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00054869	Pat7	PubMed: van de Warrenburg 2016, Journal: van de Warrenburg 2016	-	F	-	-	-	-	-	-	-	SPAX4	ataxia, ovarian dysgenesis, deafness, neuropathy, ID	1	1	Erik-Jan Kamsteeg
00056387	-	PubMed: Demain 2016, Journal: Demain 2016	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	United Kingdom (Great Britain)	Norwegian	-	-	-	-	PRLTS5	see paper; ...	2	1	Leigh Demain
00056392	-	PubMed: Nikali 2005	712 Finnish controls	-	-	Finland	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00060278	-	Submitted for publication	-	F	no	United States	-	-	-	-	-	MTDPS7	-	2	1	Sarah Pierce
00060281	-	PubMed: Hartley 2012	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	Canada	English	>05y	-	-	-	MTDPS7	see paper; ..., infantile-onset spinocerebellar ataxia (IOSCA)	2	1	Johan den Dunnen
00060282	-	PubMed: Dündar 2012	6-generation family, 4 affecteds (3F, M), unaffected heterozygous carrier parents/sibs	F;M	yes	Turkey	-	-	-	-	-	MTDPS7	see paper; ..., infantile onset spinocerebellar ataxia (IOSCA	1	4	Johan den Dunnen
00060283	-	PubMed: Nikali 2005	712 controls	F;M	-	Finland	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00060284	-	PubMed: Nikali 2005	1 family, unaffected heterozygous carrier parents/sibs	-	-	Finland	-	-	-	-	-	MTDPS7	infantile onset spinocerebellar ataxia (IOSCA)	2	1	Johan den Dunnen
00060285	-	PubMed: Nikali 2005	14 Finnish families, 20 patients, shared haplotype, unaffected heterozygous carriers	-	-	Finland	-	-	-	-	-	MTDPS7	infantile onset spinocerebellar ataxia (IOSCA)	1	20	Johan den Dunnen
00060286	-	PubMed: Faruq 2013	2-generation family, affected sister/brother, unaffected heterozygous carrier parents	F;M	yes	India	-	-	-	-	-	MTDPS7	infantile onset spinocerebellar ataxia (IOSCA); see paper ...	1	2	Johan den Dunnen
00087123	-	PubMed: Lerat 2016, Journal: Lerat 2016	3-generation family, 2 affected sisters, unaffected heterozygous carrier parents	F	yes	-	Morocco	-	-	-	-	PRLTS	see paper; ..., severe deafness, amenorrhea I, ataxia, sensory-motor polyneuropathy, arachnodactyly	1	2	Johan den Dunnen
00276000	-	-	-	-	?	Spain	-	-	-	-	-	PEOA3	-	1	1	Pablo Serrano-Lorenzo
00276002	-	-	-	-	?	Spain	-	-	-	-	-	PEOA3	-	1	1	Pablo Serrano-Lorenzo
00289290	-	-	-	M	-	-	-	-	-	-	-	?	Arrhythmia (HP:0011675); Bilateral ptosis (HP:0001488); Diplopia (HP:0000651)	1	1	Andreas Laner
00289973	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	14	Mohammed Faruq
00289974	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00289975	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00289976	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	20	Mohammed Faruq
00307456	Fam30PatLP115	PubMed: Stalke 2018	-	-	-	Germany	-	-	-	-	-	MTDPS	intestinal failure ass. liver disease, mild retardation	1	1	Johan den Dunnen
00387764	M8401811	PubMed: Hu 2019	family, 2 affected individuals, first cousin parents	-	yes	Iran	Persia	-	-	-	-	ID	syndromic intellectual disability, no microcephaly	1	2	Johan den Dunnen
00468707	-	PubMed: Retterer 2016	analysis proband (1/3040); possible combination of variants not reported	-	-	United States	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00468708	-	PubMed: Retterer 2016	analysis proband (1/3040); possible combination of variants not reported	-	-	United States	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00468709	-	PubMed: Retterer 2016	analysis proband (1/3040); possible combination of variants not reported	-	-	United States	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00468710	-	PubMed: Retterer 2016	analysis proband (1/3040); possible combination of variants not reported	-	-	United States	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00473183	Fam106691Pat352	PubMed: Molaei 2025	analysis 2009 neuromuscular disorder individuals; patient, no family history	F	yes	Iran	-	-	-	-	-	ataxia	sporadic case, age 8y , bilateral sensory neural hearing loss(SNHL), axonal sensory motor neuropathy, ataxic gait and loss of deep tendon reflexes (areflexia)	1	1	Johan den Dunnen
00473453	Fam211872Pat776	PubMed: Molaei 2025	analysis 2009 neuromuscular disorder individuals; patient, no family history	M	yes	Iran	-	-	-	-	-	motor neuron disease	onset since 5y ago with unilateral hand tremor, at rest, which extended to whole body; Mild weakness; Dysphagia; Dysarthria; Normal Brain MRI; Low ceruloplasmin & high copper level in the urine, suspicion of Wilson disease; EMG-NCV: moderate neurogenic process involving both upper/lower limb and cranial muscles with signs of old axonal loss probably suggestive of motor neuron disorder	1	1	Johan den Dunnen
00473593	Fam9410964Pat984	PubMed: Molaei 2025	analysis 2009 neuromuscular disorder individuals; patient, no family history	M	yes	Iran	-	-	-	-	-	ataxia	onset 1.5y, Delayed walking; Frequent falls; Bilateral hearing loss since 3-4y , Lower extremities weakness; Ataxia; Mild scoliosis & Lordosis; EMG-NCV: mostly distal axonal polyneuropathy, pure sensory type; Positive Romberg test; Impaired finger to nose & tandem gait; Hearing testing: Suspicious of auditory neuropathy.	1	1	Johan den Dunnen
00473862	Fam9803255Pat1361	PubMed: Molaei 2025	analysis 2009 neuromuscular disorder individuals; patient, no family history	M	no	Iran	-	-	-	-	-	CMS	Ptosis, Lt. eye since birth; Generalized muscle weakness since neonatal stage; Delayed neck holding and walking; Early fatigue; Mild flat feet; Nasal speech.	1	1	Johan den Dunnen
00474647	-	PubMed: Nair 2018	patient	-	-	Lebanon	-	-	-	-	-	?	intellectual disability; muscle weakness; seizures; decreased mitochondrial respiratory chain complex activity (Neurological)	1	1	Johan den Dunnen

Legend

How to query

Global Variome shared LOVD

C10orf2 (chromosome 10 open reading frame 2)