Disease #01509 (PSP (pneumothorax, primary spontaneous), OMIM:173600)

Official abbreviation	PSP
Name	pneumothorax, primary spontaneous
OMIM ID	173600
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	54
Phenotype entries for this disease	50
Associated with 1 gene	FLCN
Associated tissues	-
Disease features	-
Remarks	-

Individuals

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

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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'

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54 entries on 1 page. Showing entries 1 - 54.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00048066	-	-	-	F	-	Denmark	-	-	-	-	MINAS, PSP	multiple cerebral cavernous heamangiomas 48y; Multinodular goitre 48y; Submandibular oncocytoma 57y; Recurrent pnemothoraces	CCM2, FLCN	CCM2, FLCN	2	1	James Whitworth
00107987	-	PubMed: Painter 2005	-	-	-	-	-	-	-	-	PSP	4/13 had pneumothoraces, 13/13 had lung cysts	FLCN	FLCN	1	13	Johan den Dunnen
00107999	-	PubMed: Frohlich 2008	-	-	-	-	-	-	-	-	PSP	Primary Spontaneous Pneumothorax	FLCN	FLCN	1	1	Johan den Dunnen
00108003	-	PubMed: Gunji 2007	-	-	-	-	-	-	-	-	PSP	Primary Spontaneous Pneumothorax	FLCN	FLCN	1	1	Johan den Dunnen
00108004	-	PubMed: Ishi 2009, PubMed: Kunogi 2010	Same patient described in both references	-	-	Japan	Japanese	-	-	-	PSP	Primary Spontaneous Pneumothorax	FLCN	FLCN	1	1	Johan den Dunnen
00108010	-	PubMed: Ren 2008	-	-	-	-	-	-	-	-	PSP	Primary Spontaneous Pneumothorax	FLCN	FLCN	1	1	Johan den Dunnen
00108033	-	PubMed: Frohlich 2008	-	-	-	-	-	-	-	-	PSP	3/3 pneumothoraces, 3/3 lung cysts, Primary Spontaneous Pneumothorax	FLCN	FLCN	1	3	Johan den Dunnen
00108049	-	PubMed: Graham 2005	-	-	-	-	-	-	-	-	PSP	5/5 pneumothoraces, 4/4 lung cysts, Primary Spontaneous Pneumothorax	FLCN	FLCN	1	5	Johan den Dunnen
00108050	-	-	2-generation family with 3 affecters	F	-	Japan	-	-	-	-	PSP	pulmonary cysts	FLCN	FLCN	1	1	Mitsuko Furuya
00108070	-	PubMed: Ren 2008	-	-	-	-	-	-	-	-	PSP	Primary Spontaneous Pneumothorax	FLCN	FLCN	1	1	Johan den Dunnen
00108082	-	-	-	M	?	Japan	-	-	-	-	PSP	pulmonary cysts, pneumothorax	FLCN	FLCN	1	1	Mitsuko Furuya
00108086	-	PubMed: Ren 2008	-	-	-	-	-	-	-	-	PSP	Primary Spontaneous Pneumothorax	FLCN	FLCN	1	1	Johan den Dunnen
00108089	-	PubMed: Ren 2008	-	-	-	-	-	-	-	-	PSP	2/3 pneumothoraces, 3/3 lung cysts, Primary Spontaneous Pneumothorax	FLCN	FLCN	1	3	Johan den Dunnen
00108100	-	PubMed: Gunji 2007	Japanese family	-	-	-	-	-	-	-	PSP	Primary Spontaneous Pneumothorax	FLCN	FLCN	1	1	Johan den Dunnen
00108108	-	PubMed: Graham 2005	-	-	-	-	-	-	-	-	PSP	6/6 Primary Spontaneous Pneumothorax	FLCN	FLCN	1	6	Johan den Dunnen
00108118	-	PubMed: Gunji 2007, PubMed: Kunogi 2010	-	-	-	Japan	Japanese	-	-	-	PSP	Primary Spontaneous Pneumothorax	FLCN	FLCN	1	1	Johan den Dunnen
00276357	-	PubMed: McDermott et al 2018	-	F	-	-	-	-	-	-	PSP	-	FLCN	FLCN	1	2	Derek Lim
00285785	-	PubMed: Hoshika et al. 2016	-	-	-	-	-	-	-	-	PSP	Pneumothorax, lung cyst	FLCN	FLCN	1	1	Derek Lim
00285786	-	PubMed: Liu et al. 2017b	-	-	-	-	-	-	-	-	PSP	Pneumothorax, lung cysts	FLCN	FLCN	1	1	Derek Lim
00285788	-	PubMed: Liu et al. 2017	-	-	-	-	-	-	-	-	PSP	Pneumothorax, lung cyst	FLCN	FLCN	1	1	Derek Lim
00285791	-	PubMed: Liu et al. 2017	-	-	-	-	-	-	-	-	PSP	Pneumothorax, lung cyst,	FLCN	FLCN	1	1	Derek Lim
00285797	-	PubMed: Liu et al. 2019	-	-	-	-	-	-	-	-	PSP	Pneumothorax	FLCN	FLCN	1	1	Derek Lim
00285803	-	PubMed: Kim et al. 2012	-	-	-	-	-	-	-	-	PSP	3/3 pneumothoraces	FLCN	FLCN	1	3	Derek Lim
00285805	-	PubMed: Nikolaidou et al. 2016	-	-	-	-	-	-	-	-	PSP	Pneumothorax, lung cysts	FLCN	FLCN	1	1	Derek Lim
00285807	-	PubMed: Wiyono et al. 2016	-	-	-	-	-	-	-	-	PSP	pneumothorax, lung cysts	FLCN	FLCN	1	1	Derek Lim
00285809	-	PubMed: Okada et al. 2015	-	-	-	-	-	-	-	-	PSP	Pneumothorax, lung cysts	FLCN	FLCN	1	1	Derek Lim
00285810	-	PubMed: Liu et al. 2019	-	-	-	-	-	-	-	-	PSP	Pneumothorax, lung cysts	FLCN	FLCN	1	1	Derek Lim
00285811	-	PubMed: Liu et al. 2017	-	-	-	-	-	-	-	-	PSP	Pneumothorax, lung cysts	FLCN	FLCN	1	1	Derek Lim
00285818	-	PubMed: Liu et al. 2019	-	-	-	-	-	-	-	-	PSP	Pneumothorax, lung cysts	FLCN	FLCN	1	1	Derek Lim
00285822	-	PubMed: Liu et al. 2019	-	-	-	-	-	-	-	-	PSP	Pneumothorax, lung cysts	FLCN	FLCN	1	1	Derek Lim
00285823	-	PubMed: Liu et al. 2019	-	-	-	-	-	-	-	-	PSP	Pneumothorax, lung cysts	FLCN	FLCN	1	1	Derek Lim
00285830	-	PubMed: Liu et al. 2017	-	-	-	-	-	-	-	-	PSP	-	FLCN	FLCN	1	1	Derek Lim
00285833	-	PubMed: Kim et al. 2017	-	-	-	-	-	-	-	-	PSP	Pneumothorax, lung cysts	FLCN	FLCN	1	1	Derek Lim
00285834	-	PubMed: Liu et al. 2017	-	-	-	-	-	-	-	-	PSP	Pneumothorax, lung cysts	FLCN	FLCN	1	1	Derek Lim
00285835	-	PubMed: Kumar et al. 2019	-	-	-	-	-	-	-	-	PSP	Pneumothorax, lung cysts	FLCN	FLCN	1	1	Derek Lim
00285836	-	PubMed: Liu et al. 2017	-	-	-	-	-	-	-	-	PSP	-	FLCN	FLCN	1	1	Derek Lim
00285838	-	PubMed: Burkett et al. 2016	-	-	-	-	-	-	-	-	PSP	Pneumothorax	FLCN	FLCN	1	1	Derek Lim
00285845	-	PubMed: Torricelli et al. 2019	-	-	-	-	-	-	-	-	PSP	2/2 pneumothoraces, 2/2 lung cysts, 1/2 fibrofolliculoma	FLCN	FLCN	1	2	Derek Lim
00285848	-	PubMed: Johannesma et al. 2015	-	-	-	-	-	-	-	-	PSP	Pneumothorax, lung cysts	FLCN	FLCN	1	1	Derek Lim
00285850	-	-	-	-	-	-	-	-	-	-	PSP	-	FLCN	FLCN	1	1	Derek Lim
00285852	-	PubMed: Liu et al. 2017	-	-	-	-	-	-	-	-	PSP	Pneumothorax, lung cysts	FLCN	FLCN	1	1	Derek Lim
00286168	-	PubMed: Iwabuchi et al. 2018	-	-	-	-	-	-	-	-	PSP	Pneumothorax, lung cysts	FLCN	FLCN	1	1	Derek Lim
00320396	-	PubMed: Ebana et al 2016	-	-	-	-	-	-	-	-	PSP	Pneumothorax, lung cysts	FLCN	FLCN	1	1	Derek Lim
00320399	-	PubMed: Kamda et al 2015	-	-	-	-	-	-	-	-	PSP	-	FLCN	FLCN	1	1	Derek Lim
00320400	-	PubMed: Miura et al 2015	-	-	-	-	-	-	-	-	PSP	Pneumothorax, lung cysts	FLCN	FLCN	1	1	Derek Lim
00320401	-	PubMed: Tamburrini et al 2015	-	-	-	-	-	-	-	-	PSP	Pneumothorax, lung cysts	FLCN	FLCN	1	1	Derek Lim
00320402	-	PubMed: Demir et al 2016	-	-	-	-	-	-	-	-	PSP	Pneumothorax, lung cyst	FLCN	FLCN	1	1	Derek Lim
00320403	-	PubMed: Dow et al 2016	-	-	-	-	-	-	-	-	PSP	Pneumothorax, lung cysts, fibrofolliculoma	FLCN	FLCN	1	1	Derek Lim
00320409	-	PubMed: Jensen et al 2017	-	-	-	-	-	-	-	-	PSP	Pneumothorax	FLCN	FLCN	1	1	Derek Lim
00320410	-	PubMed: Takegahara et al 2017	-	-	-	-	-	-	-	-	PSP	pneumothorax, lung cysts	FLCN	FLCN	1	1	Derek Lim
00320411	-	PubMed: Whitworth et al 2017	-	-	-	-	-	-	-	-	PSP	-	FLCN	-	0	1	Derek Lim
00320413	-	PubMed: Bock et al 2018	-	-	-	-	-	-	-	-	PSP	pneumothorax, RCC, lung cysts	FLCN	FLCN	1	1	Derek Lim
00320417	-	PubMed: Furuya et al 2018	-	-	-	-	-	-	-	-	PSP	Pneumothorax, lung cysts	FLCN	FLCN	1	1	Derek Lim
00359570	-	PubMed: McDermott 2018	family, 2 affectd sisters	F	-	Ireland	-	-	-	-	PSP	pneumothorax, lung cysts	FLCN	FLCN	1	2	Kenki Matsumoto

Legend

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Global Variome shared LOVD