All individuals with variants in gene POLG

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.

104 entries on 2 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2		Next ›	Last »

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00000042	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00000046	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00000078	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00000085	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00000086	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00000088	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00016320	-	-	-	M	no	Italy	-	-	-	-	-	DRVT	-	1	1	Lab Zuffardi
00036538	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036539	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036540	-	-	-	-	-	Germany	-	-	-	-	-	?	Leigh syndrome	1	1	Andreas Laner
00036541	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036542	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036543	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036544	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036545	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036546	-	-	-	-	-	Germany	-	-	-	-	-	?	FIRES	1	1	Andreas Laner
00036547	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036548	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036549	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected CPEO, since 3-4 years impaired vision (flickering before the eyes, double vision), ptosis left>right	1	1	Andreas Laner
00036550	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036551	-	-	-	-	-	Germany	-	-	-	-	-	?	epileptic encephalopathy , cardiopulmonary reanimation perinatal, ventilation, dysphagia, ASD II; family history: brother died (same disease)	1	1	Andreas Laner
00036552	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036553	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036554	-	-	-	-	-	Germany	-	-	-	-	-	?	cerebellar syndrome	1	1	Andreas Laner
00036555	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036556	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected SANDO syndrome, epilepsy, mental retardation, ataxia, dysarthria	1	1	Andreas Laner
00036557	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected Alpers syndrome, occipital epilepsy	1	1	Andreas Laner
00036558	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036559	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036560	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036561	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036562	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036563	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036564	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected progressive myoklonic epilepsiy (Unverricht-Lundborg-disease), since the seventh year of life disorders of psychological development , epilepsy with myoklonic and grand-mal-seizures , hepatomegaly with cholestatic hepatitis, diabetes mellitus type 2, ataxia -mild pyramidalsyndrome, strabismus with diplopia and mild extrapyramidal symptomatology, family history:cousin of father died from hepatic disease at the age of 38	1	1	Andreas Laner
00036565	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036566	-	-	-	-	-	Germany	-	-	-	-	-	?	severe abnormal development with Myelinisierungsstörung, progressive brain atrophy and epilepsy,Valproat-Therapy is planned	1	1	Andreas Laner
00036567	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036568	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036569	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036570	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036571	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036572	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036573	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036574	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036575	-	-	-	-	-	Germany	-	-	-	-	-	?	ptosis and mild CPEO; suspected autosomal dominant inheritance, sister of index ptosis, mild tetraparesis and white matter lesions in cMRT,father of index and his sister affected with CPEO; other patient: neonatal myoklonic seizures	1	1	Andreas Laner
00036576	-	-	-	-	-	Germany	-	-	-	-	-	?	ptosis and mild CPEO; suspected autosomal dominant inheritance, sister of index ptosis, mild tetraparesis and white matter lesions in cMRT,father of index and his sister affected with CPEO; other patient: neonatal myoklonic seizures	1	1	Andreas Laner
00080863	-	PubMed: Trujillano 2017	unaffected parents	-	-	-	-	-	-	-	-	PEOB1	Progressive external ophthalmoplegia, autosomal recessive 1 (OMIM:258450)	1	1	Daniel Trujillano
00105903	-	Castiglioni, submitted	-	F	no	Chile	-	-	-	-	-	?	mitochondrial distal myopathy with cachexia, sensory-motor neuropathy, mitochondrial myopathy, congenital cataracts and glaucoma	3	1	Fabiana Fattori
00105904	-	Castiglioni, submitted	-	F	no	Chile	-	-	-	-	-	?	generalized muscle wasting with distal tetraparesis,acute glaucoma, secondary myelin abnormalities	3	1	Fabiana Fattori
00105907	-	Castiglioni, submitted	-	M	no	Italy	-	-	-	-	-	?	mitochondrial distal myopathy with cachexia, sensory-motor neuropathy, mitochondrial myopathy, congenital cataracts and glaucoma	2	1	Fabiana Fattori
00177006	71693	-	-	M	no	Switzerland	-	-	-	-	-	EE	HP:0008936 HP:0002078 HP:0002066 HP:0002522 HP:0001761 HP:0000154 HP:0004533	2	1	Anaïs Begemann
00207382	-	-	also has a dominant MYH7 mutation with cardiomyopathy	F	no	Portugal	white	>52y	-	-	ubiquinone 200 mg daily	CPEO	-	3	3	André Militão
00209012	28771251-Pat14	PubMed: Lionel 2018	-	F	-	Canada	-	-	-	-	-	?	Complex neurological phenotype	1	1	Johan den Dunnen
00210176	-	-	-	F	-	Germany	-	-	-	-	-	-	HP:0003198 (Myopathy); HP:0011805 (Abnormality of muscle morphology)	1	1	Andreas Laner
00219070	28902413-Pat80	PubMed: Dohrn 2017, Journal: Dohrn 2017	analysis 612 patients	F	-	(Germany)	-	-	-	-	-	HSN	PEO, MERRF, sensory ataxic neuropathy; no family history	2	1	Johan den Dunnen
00219071	28902413-Pat81	PubMed: Dohrn 2017, Journal: Dohrn 2017	analysis 612 patients	F	-	(Germany)	-	-	-	-	-	HSN	PEO, MERRF, sensory ataxic neuropathy; no family history	3	1	Johan den Dunnen
00248133	-	-	-	F	-	-	-	-	-	-	-	-	HP:0003198 (Myopathy); HP:0001324 (Muscle weakness); HP:0011804 (Abnormality of muscle physiology)	1	1	Andreas Laner
00269588	-	-	-	M	no	Korea	-	-	-	-	-	LCA	-	2	1	Jinu Han
00274205	Pat113	PubMed: Pronicka 2016	no family history	M	-	Poland	-	-	-	-	-	?	deceased; mitochondrial disease criteria score 4; muscle biopsy	2	1	Johan den Dunnen
00291319	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	90	Mohammed Faruq
00291320	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00291321	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	3	Mohammed Faruq
00291322	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	3	Mohammed Faruq
00291323	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	65	Mohammed Faruq
00291324	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	3	Mohammed Faruq
00291325	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	3	Mohammed Faruq
00291326	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	12	Mohammed Faruq
00291327	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00291328	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00291329	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	2	Mohammed Faruq
00291330	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	2	Mohammed Faruq
00291331	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00291332	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	2	Mohammed Faruq
00291333	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	4	Mohammed Faruq
00296539	-	-	-	F	-	-	-	-	-	-	-	?	Sensorimotor neuropathy (HP:0007141)	1	1	Andreas Laner
00299686	-	-	-	M	-	-	-	-	-	-	-	?	Seizures (HP:0001250)	1	1	Andreas Laner
00301394	-	-	-	F	-	Germany	-	-	-	-	-	?	Ataxia (HP:0001251); Tremor (HP:0001337)	1	1	Andreas Laner
00304485	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00307458	Fam32PatLP149	PubMed: Stalke 2018	-	-	-	Germany	-	-	-	-	-	MTDPS	liver fibrosis with portal hypertension	2	1	Johan den Dunnen
00308747	-	PubMed: Le 2019	analysis 305 unrelated individuals	-	-	Viet Nam	-	-	-	-	-	Healthy/Control	-	1	1	Global Variome, with Curator vacancy
00309883	-	-	-	F	-	-	-	-	-	-	-	?	Ptosis (HP:0000508)	3	1	Andreas Laner
00314395	-	PubMed: Topf 2020	analysis 1001 patients with unexplained limb-girdle weakness	-	-	-	-	-	-	-	-	LGMD	-	1	1	Johan den Dunnen
00324340	-	-	-	F	-	-	-	-	-	-	-	?	Mitochondrial inheritance (HP:0001427); Mitochondrial myopathy (HP:0003737); Mitochondrial encephalopathy (HP:0006789); Epilepsia partialis continua (HP:0012847)	1	1	IMGAG
00324868	Fam1	Journal: Schalk 2020, PubMed: Schalk 2022	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	United States	-	-	-	-	-	NDD	see paper; ..., birth 41w, weight -0.3SD, length -0.3SD; weight +0SD, length +0.6SD, OFC +0.6SD; mild intellectual disability/developemental delay; seizures; motor delay; speech delay; 12-24m-first words; autistic behaviour; stereotypies with echolalia; hyperactivity; anxiety; aggressiveness; no feeding difficulties; sleeping disturbance; no prominent forehead; no prominent forehead; no flat nasal bridge; no thin upper lip; hypothyroidy, growth hormone deficiency	1	1	Johan den Dunnen
00334900	Pat4	PubMed: Tao 2011, PubMed: Sandford 2016	2-generation family, affected sister/brother and sibling (of sister)	F	-	United States	-	-	-	-	-	epilepsy	myoclonic seizures, generalized EEG pattern, ataxia; brother with same variants and similar clinical phenotype with myoclonic seizures and generalized discharges	3	3	Johan den Dunnen
00334912	Pat4-sib	PubMed: Sandford 2016	sibling patient 4	M	-	United States	-	-	-	-	-	epilepsy	see paper; ..., atypical Unverricht Lundborg disease (early-onset myoclonus epilepsy, ataxia)	3	1	Johan den Dunnen
00374447	S-1439	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	Mitochondrial cytopathy, basal ganglia abnormality, cerebral atrophy, encephalopathy, generalized seizures, epilepsy, delayed motor development, failure to thrive, regression of milestones since 15 months of age, hypotonia, and attention and cognitive deficit	1	1	Johan den Dunnen
00374767	S-5822	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00384650	patient	PubMed: Lin 2021	2-generation family, 1 affected, unaffected heterozygous carrier mother	M	no	China	-	-	-	-	-	CPEO	strabismus (HP:0000486), ophthalmoplegia (HP:0000602), bilateral ptosis (HP:0001488), exotropia ( HP:0000577), ophthalmoparesis ( HP:0000597), Abnormality of eye movement ( HP:0000496)	2	1	Giovanna Aschettino
00387997	patient	PubMed: Hedberg-Oldfors 2020	2-generation family, 1 affected, unaffected heterozygous carrier relatives	M	no	Sweden	-	-	-	-	-	PEOA	bilateral ptosis (HP:0001488), horizontal ophthalmoplegia (HP:0000602), slight bilateral sensory-neuronal hearing impairment (HP:0008619), atrophy of the mesencephalon pedunculus cerebelli superior (HP:0001272), frontotemporal parts of the brain (HP:0006892)	2	1	Giovanna Aschettino
00388005	Fam1PatII1	PubMed: Phillips 2019	2-generation family, 1 affected, unaffected heterozygous carrier mother/relatives	F	no	Germany	-	-	-	-	-	CMT	Impaired vibration sensation in the lower limbs (HP:0002166), Impaired pain sensation (HP:0007328), Ophthalmoparesis (HP:0000597), Decreased amplitude of sensory action potentials (HP:0007078), normal to reduced motor responses in the feet Chronic denervation signs (HP:0003444), Postural instability (HP:0002172)	2	1	Giovanna Aschettino
00388009	Fam2PatII1	PubMed: Phillips 2019	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	no	United States	-	-	-	-	-	CMT	Global developmental delay (HP:0001263), delayed speech), Postural instability (HP:0002172), Abnormality of the Achilles tendon (HP:0005109), Achalasia (HP:0002571), Ankle weakness (HP:0031374), Weakness of the intrinsic hand muscles (HP:0009005), Proximal muscle weakness (HP:0003701), Impaired vibratory sensation (HP:0002495), Impaired pain sensation (HP:0007328), EMG: chronic denervation signs (HP:0003444)	2	1	Giovanna Aschettino
00388180	37	PubMed: Surl 2020	-	M	-	Korea	-	-	-	-	-	retinal disease	Nystagmus: Wandering eye movement, best corrected visual acuity right eye/left eye: FC/FC, fundus: Pigmentary retinopathy, Marbled fundus, ERG: Extinguished, additional features: Chronic pancreatitis, Nephronophthisis, Caroli disease, Hypotonia, Mental retardation, Leigh-like syndrome	2	1	LOVD
00396466	101	PubMed: Sudha 2017	-	M	-	(United States)	-	-	-	-	-	retinal disease	retinoschisis with developmental delay, sensorineural hearing loss, and reduced axial tone	1	1	LOVD
00402846	199792	-	-	M	no	United States	white	-	-	-	-	MTDPS4B	Multiple autoimmune diagnoses (psoriasis, eosinophilic colitis, inflammatory arthritis)	1	2	Jessica L. Schnell
00428413	208205	-	-	M	no	Germany	-	-	-	-	-	MTDPS4A	Status epilepticus, Refractory drug response, Developmental stagnation at onset of seizures, Hemiparesis, Myoclonus, Decreased liver function, Fatal liver failure in infancy, Seizure, Developmental stagnation at onset of seizures, Infantile muscular hypotonia	2	1	Andreas Laner
00435463	Pat1	PubMed: Sajan 2019	-generation family, 1 affected, unaffected heterozygous parents	-	-	United States	-	-	-	-	-	RLSDF	see paper; ..., birth weight 3.18kg (32nd), length 50.8cm (69th); weight 73.6kg (92nd), height 156.7 cm (17th), OFC 55.4 cm (84th), body mass index 30 kg/m2 (96th); Rhizomelic shortening and milder mesomelic shortening upper and lower extremities, short thumbs, bilateral short 5th fingers, hyperextensible fingers, bilateral middle finger clinodactyly, limited range of motion shoulder joints, chronic joint pain, juvenile idiopathic arthritis, bilateral patellofemoral joint dislocation; prominent forehead, downslanting palpebral fissures, broad nasal bridge, long philtrum; obesity, left-sided headaches, acanthosis nigricans, chronic stage 1 kidney disease, café au lait macule on upper right arm, depressed mood, occasional abdominal pain, dizziness, nausea, left-sided small branchial cleft defect covered with skin without an obvious fistula; no cardiac anomalirs	1	1	Johan den Dunnen
00438678	HSJ0652	PubMed: Hamdan 2017	WGS analysis 197 individuals with unexplained DEE (unaffected parents)	-	-	Canada	-	-	-	-	pharmaco-resistant seizures	DEE	-	1	1	Johan den Dunnen
00453109	Pat65	PubMed: Rots 2024, Journal: Rots 2024	-	M	-	-	-	-	-	-	-	NDD	see paper; ... (very detailed phenotype descriptions)	1	1	Johan den Dunnen
00454711	NGSP98	PubMed: Legati 2016	2-generation family, affected patient, mother and brother	M	-	-	-	-	-	-	-	mitochondrial	myopathy	1	3	Daniele Ghezzi

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Global Variome shared LOVD

POLG (polymerase (DNA directed), gamma)