All individuals with variants in gene GOSR2

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.

44 entries on 1 page. Showing entries 1 - 44.

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
00054866	?;Pat5	PubMed: Neveling 2013, PubMed: van de Warrenburg 2016, Journal: van de Warrenburg 2016	-	F	-	-	-	-	-	-	-	SPAX4	ataxia, myoclonus, dystonia, epilepsy, high CK	1	1	Erik-Jan Kamsteeg
00054881	Pat1	PubMed: Corbett 2011, Journal: Corbett 2011	2-generation family, 1 affected, unaffected heterozygous carrier parents/sib	F	yes	Australia	-	32y	-	-	-	EPM6	7y tremor; 7-8y absences; 8y obvious myoclonus; 13y drop attacks; 13y convulsive seizures; 2y areflexia; 14y wheelchair; 22y bedfast; normal cognition until 25y, mmemory difficulties later; scoliosis, pes cavus; EEG generalized spike-wave, posterior emphasis photosensitive; CK 570–800 (normal <170)	1	1	Johan den Dunnen
00054882	Pat2	PubMed: Corbett 2011, Journal: Corbett 2011	2-generation family, 1 affected, unaffected heterozygous carrier parents/sib	F	no	Germany	-	>17y	-	-	-	EPM6	4y tremor; 6y myoclonus; 14y drop attacks; myoclonic status; 2y areflexia; 15y wheelchair; normal cognition; scoliosis; EEG generalized spike-wave, posterior emphasis photosensitive; CK 150–580 (normal <170)	1	1	Johan den Dunnen
00054883	Pat3	PubMed: Corbett 2011, Journal: Corbett 2011	2-generation family, 1 affected, unaffected heterozygous carrier parents/sib	F	no	Netherlands	-	>32y	-	-	-	EPM6	6y myoclonus; 14y convulsive seizures; 3y areflexia; 13y wheelchair; normal cognition; scoliosis, syndactly; EEG generalized spike-wave photosensitive; CK 141–267 (normal <170)	1	1	Johan den Dunnen
00054884	Pat4	PubMed: Corbett 2011, Journal: Corbett 2011	2-generation family, 1 affected, unaffected heterozygous carrier parents/sib	F	no	Netherlands	-	>30y	-	-	-	EPM6	5y fine motor problems; 7y worsening ataxia; 6y absences; 10y myoclonus; 12y tonic-clonic; 14y drop attacks; 7y areflexia; 24y wheelchair; normal cognition until 25y, memory difficulties later; scoliosis, syndactly; EEG generalized spike-wave, posterior emphasis photosensitive; CK 700–900 (normal <170)	1	1	Johan den Dunnen
00054885	Pat5a	PubMed: Corbett 2011, Journal: Corbett 2011	2-generation family, 2 affected sibs (F, M), unaffected heterozygous carrier parents	F	no	Netherlands	-	24y	-	-	-	EPM6	6y myoclonus; 21y tonic-clonic seizures; 6y areflexia; 14y wheelchair; normal cognition; scoliosis; EEG generalized discharges photosensitive; CK 300–668 (normal <170)	1	2	Johan den Dunnen
00054886	Pat5b	PubMed: Corbett 2011, Journal: Corbett 2011	brother of 5a	M	no	Netherlands	-	>28y	-	-	-	EPM6	5.5y myoclonus; 24y tonic-clonic seizures; absences; tonic seizures; 3y areflexia; 13y wheelchair; normal cognition; scoliosis; EEG generalized discharges photosensitive; CK 174–213 (normal <170)	1	1	Johan den Dunnen
00054887	Pat1;Pat8	PubMed: Van Egmond 2014, Journal: Van Egmond 2014, PubMed: Polet 2020	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	Netherlands	-	>19y	-	-	-	EPM6	Ramsay Hunt Syndrome; 3y ataxia, 5y myoclonus, 9y tonic seizures, 3y areflexia, scoliosis; EEG generalized epileptic discharges, photoconvulsive response; EMG findings indicating sensory neuronopathy, findings indicating anterior horn cell involvement; CK normal; 5y muscle histology normal; 19y ambulant; normal cognition	1	1	Johan den Dunnen
00054888	Pat2;Pat12	PubMed: Van Egmond 2014, Journal: Van Egmond 2014, PubMed: Polet 2020	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	Netherlands	-	>26y	-	-	-	EPM6	Ramsay Hunt Syndrome; 3y ataxia, 6y myoclonus, 11y generalized tonic clonic seizures, 6y areflexia (not tested earlier), no skeletal abnormaliatie;, EEG generalized epileptic discharges, photoconvulsive response; EMG findings indicating sensory neuronopathy, findings indicating anterior horn cell involvement; CK normal; 19y ambulant; mild learning difficulties	1	1	Johan den Dunnen
00054889	Pat3;Pat9	PubMed: Van Egmond 2014, Journal: Van Egmond 2014, PubMed: Polet 2020	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	Netherlands	-	>20y	-	-	-	EPM6	Ramsay Hunt Syndrome; 2y ataxia, 6y myoclonus, 6y generalized tonic clonic seizures, 9y areflexia (not tested earlier), scoliosis, syndactyl;, EEG generalized epileptic discharges, photoconvulsive response; EMG findings indicating sensory neuronopathy; CK normal; 8y wheelchair-bound; mild learning difficulties	1	1	Johan den Dunnen
00054890	Pat4;Pat5	PubMed: Van Egmond 2014, Journal: Van Egmond 2014, PubMed: Polet 2020	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	Netherlands	-	>12y	-	-	-	EPM6	Ramsay Hunt Syndrome; 5y ataxia, 8y myoclonus, 3y clonic seizures, 5y areflexia, scoliosis,; EEG generalized epileptic discharges, photoconvulsive response; EMG findings indicating sensory neuronopathy, findings indicating anterior horn cell involvement; CK 400-500 (normal <200); 7y/10y muscle histology normal; 12y ambulant; normal cognition	1	1	Johan den Dunnen
00054891	Pat5;patient;Pat4	PubMed: Van Egmond 2014, Journal: Van Egmond 2014, PubMed: van Egmond 2015, PubMed: Polet 2020	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	Netherlands	-	>07y	-	-	-	EPM6	2y-frequent falls, clumsy gait; 3y ataxia, 6y myoclonus, no seizures, 3y areflexia, no skeletal abnormalities; 3y EMG normal; CK normal; 7y ambulant; normal cognition	1	1	Johan den Dunnen
00154385	-	-	-	F	no	United States	-	-	-	-	-	EPM6	-	2	1	Elizabeth Ulm
00291768	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	134	Mohammed Faruq
00291769	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00291770	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00304587	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	4	Mohammed Faruq
00399378	patient	PubMed: Praschberger 2015	3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	F	-	United Kingdom (Great Britain)	-	>61y	-	-	-	EPM	see paper ..., progressive myoclonus epilepsy; 2y-mild gait ataxia, transient episodes omotor deterioration triggered by infection and fever; 14y-generalized action myoclonus, epilepsy; heterozygous carrier brother suffers from typical cervical dystonia	2	1	Johan den Dunnen
00399381	Pat6	PubMed: Boisse Lomax 2013	patient, second cousin parents	M	yes	Norway	-	-	-	-	-	EPM	see paper; ..., 1y-ataxia; 4y6m-myoclonus; nocturnal status myoclonica; 8y6m-generalized tonic clonic seizures; 14m-febrile convulsion; scoliosis, thickened webbing between second and third toe; highest CK 1135 IU; 11y-wheelchair bound	1	1	Johan den Dunnen
00399382	Pat7	PubMed: Boisse Lomax 2013	-	M	-	Denmark	-	-	-	-	-	EPM	see paper; ..., 3y-ataxia; 5y-myoclonus; 21y-generalized tonic clonic seizures; 7y-absence; drop attacks during fever; 2y-atypical absence; scoliosis, pes cavus; highest CK 2360 IU; 10y-wheelchair bound; 24y-dysphagia; 26y-PEG, respirator dependent	1	1	Johan den Dunnen
00399383	Pat8	PubMed: Boisse Lomax 2013	-	M	-	Netherlands	-	27y	-	-	-	EPM	see paper; ..., 3y6m-ataxia; 4y-myoclonus; 8y-generalized tonic clonic seizures; 5y-absence; scoliosis; highest CK 2467 IU; 10y-wheelchair bound; 25y-dysphagia; 27y-deceased status epilepticus	1	1	Johan den Dunnen
00399384	Pat9	PubMed: Boisse Lomax 2013	-	F	-	Germany	-	-	-	-	-	EPM	see paper; ..., 2y-ataxia; 6y-myoclonus; 10y-generalized tonic clonic seizures; drop attacks; scoliosis, pes cavus; highest CK 500 IU; 14y-wheelchair bound	1	1	Johan den Dunnen
00399385	Pat10	PubMed: Boisse Lomax 2013	-	M	yes	Denmark	-	-	-	-	-	EPM	see paper; ..., 3y-ataxia; 12y-myoclonus; 3y-generalized tonic clonic seizures, absence, drop attacks; scoliosis; highest CK 391 IU; 24y-wheelchair bound; 26y-dysphagia	1	1	Johan den Dunnen
00399386	Pat11;Pat7	PubMed: Boisse Lomax 2013, PubMed: Polet 2020	-	F	-	Netherlands	-	-	-	-	-	EPM	see paper; ..., 2y3m-ataxia; 6y-myoclonus; 12y-generalized tonic clonic seizures; scoliosis, pes cavus; highest CK 989 IU; 10y-wheelchair bound; dysphagia early childhood	1	1	Johan den Dunnen
00399389	PatIV1;Pat6	PubMed: Anderson 2016, PubMed: Polet 2020	4-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives	M	-	South Africa	Germany-N	-	-	-	-	EPM	see paper; ...	1	3	Johan den Dunnen
00399390	PatIV5;Pat15	PubMed: Anderson 2016, PubMed: Polet 2020	PatIV5	F	-	South Africa	Germany-N	-	-	-	-	EPM	see paper; ...	1	1	Johan den Dunnen
00399391	PatIV6;Pat13	PubMed: Anderson 2016, PubMed: Polet 2020	PatIV6	F	-	South Africa	Germany-N	-	-	-	-	EPM	see paper; ...	1	1	Johan den Dunnen
00399392	FamPat2	PubMed: Larson 2018	2-generation family, 2 affected sisters, unaffected heterozygous carrier parents	F	-	United States	-	-	-	-	-	seizures	see paper; ...	2	2	Johan den Dunnen
00399395	patient	PubMed: Henige 2021	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	United States	white;Germany/UK	-	-	-	-	MDC	see paper; ..., congenital muscular dystrophy; 22m-no clinical seizures, EEG abnormal; severe hypotonia, areflexia, global developmental delays; nystagmus; elevated CK, normal serum O-glycan analysis	2	1	Johan den Dunnen
00399409	patient	Journal: Tsai 2013, WMS Abs P1.20	-	M	-	Australia	-	-	-	-	-	MDC	born with mild hypotonia; severe developmental delay, optic nerve atrophy; serum creatine kinase 5582; MRI brainperiventricular white matter loss, ventriculomegaly, athin corpus callosum; muscle biopsy severe non-specific dystrophic changes	2	1	Johan den Dunnen
00399410	patients	PubMed: Polet 2020	8 new patients	F;M	-	-	-	-	-	-	-	EPM	-	1	8	Johan den Dunnen
00399412	-	PubMed: Boisse Lomax 2013	-	-	-	-	-	-	-	-	-	EPM	-	1	1	Johan den Dunnen
00399413	-	PubMed: Boisse Lomax 2013	-	-	-	-	-	-	-	-	-	EPM	-	1	1	Johan den Dunnen
00399414	-	PubMed: Boisse Lomax 2013	-	-	-	-	-	-	-	-	-	EPM	-	1	1	Johan den Dunnen
00399416	-	PubMed: Boisse Lomax 2013	-	-	-	-	-	-	-	-	-	EPM	-	1	1	Johan den Dunnen
00401199	patient	PubMed: Stemmerik 2021	-	F	-	Netherlands	-	-	-	-	-	MYOP	see paper; ..., 4y-frequent falls	2	1	Johan den Dunnen
00401200	Pat1	PubMed: Polet 2020	-	M	-	-	-	-	-	-	-	EPM	2-3y-trembling/jerks, frequently falling; 4y-ataxia; 4y-myoclonus; walks	1	1	Johan den Dunnen
00401201	Pat2	PubMed: Polet 2020	-	M	-	-	-	-	-	-	-	EPM	1-2y-delayed motor development (difficulties sitting without support, 22m-walk), gait disorder, frequently falling, clumsiness, hypotonia; 2y-ataxia; 5y-myoclonus; 7y-seizures; walks	1	1	Johan den Dunnen
00401202	Pat3	PubMed: Polet 2020	-	F	-	-	-	-	-	-	-	EPM	1y-clumsiness, frequently falling; 2y-ataxia during intercurrent illness; 2y-ataxia; 3y-myoclonus; 7y-seizures; scoliosis, pes varus; barely walks, frequent use wheelchair; CK 2816	1	1	Johan den Dunnen
00401203	Pat10	PubMed: Polet 2020	-	M	-	-	-	-	-	-	-	EPM	slightly delayed development (11m-sit, 16m-walk); 4y-muscle weakness, areflexia, facial diplegia during intercurrent illness (initially presumed to be GBS); 5y-ataxia; 8y-myoclonus; 8y-seizures; scoliosis, pes cavus; barely walks, frequent use wheelchair; CH 83	1	1	Johan den Dunnen
00401204	Pat11	PubMed: Polet 2020	-	M	-	-	-	-	-	-	-	EPM	birth-jerks; 7y-clumsiness ; 8y-ataxia; 9y-myoclonus; 8y-seizures; scoliosis, syndactyly of hands and toes; barely walks, frequent use wheelchair; CK 182	1	1	Johan den Dunnen
00401205	Pat14	PubMed: Polet 2020	-	M	-	-	-	-	-	-	-	EPM	2y-delayed motor development (2y-walk), gait disorder; ataxia; myoclonus; 6/7y-seizures; wheelchair bound; CK 237	1	1	Johan den Dunnen
00401206	Pat16	PubMed: Polet 2020	-	F	-	-	-	-	-	-	-	EPM	birth-hypotonia; 13m-walk on toes and needed support during walking; 4y-gait disorder, motoric skill impairment; ataxia; 5-6y-myoclonus; 8y-seizures; scoliosis; wheelchair bound	1	1	Johan den Dunnen
00401207	Pat17	PubMed: Polet 2020	-	F	-	-	-	-	-	-	-	EPM	2y-clumsiness, frequently falling, gait disorder after intercurrent illness; 3y-ataxia; 4y-myoclonus; 6y/7y-seizures; pes cavus; wheelchair bound	1	1	Johan den Dunnen

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Global Variome shared LOVD

GOSR2 (golgi SNAP receptor complex member 2)