Disease #06856 (GAMOS2 (Galloway-Mowat syndrome 2, X-linked), OMIM:301006)

Official abbreviation	GAMOS2
Name	Galloway-Mowat syndrome 2, X-linked
OMIM ID	301006
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	X-linked recessive
Individuals reported having this disease	73
Phenotype entries for this disease	73
Associated with 1 gene	LAGE3
Associated tissues	-
Disease features	-
Remarks	-
Date created	2021-12-10 23:20:41 +01:00 (CET)
Date last edited	N/A

Individuals

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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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73 entries on 1 page. Showing entries 1 - 73.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00415656	LAD-A	PubMed: Mory 2008, Journal: Mory 2008, PubMed: van de Vijver 2012, Journal: van de Vijver 2012, PubMed: Manevich-Mendelson 2009, Journal: Manevich-Mendelson 2009	-	F	-	Turkey	-	-	-	-	-	GAMOS2	see paper; ...	FERMT3	FERMT3	1	1	Johan den Dunnen
00415657	LAD-K	PubMed: Mory 2008, Journal: Mory 2008, PubMed: van de Vijver 2012, Journal: van de Vijver 2012	-	-	-	Turkey	-	-	-	-	-	GAMOS2	see paper; ...	FERMT3	FERMT3	1	1	Johan den Dunnen
00415658	LAD-N	PubMed: Mory 2008, Journal: Mory 2008, PubMed: van de Vijver 2012, Journal: van de Vijver 2012	-	-	-	Turkey	-	-	-	-	-	GAMOS2	see paper; ...	FERMT3	FERMT3	1	1	Johan den Dunnen
00415659	Fam1	PubMed: Kuipers 2009, Journal: Kuipers 2009, PubMed: van de Vijver 2012, Journal: van de Vijver 2012	-	M	-	Turkey	-	-	-	-	-	GAMOS2	see paper; ...	FERMT3	FERMT3	1	1	Johan den Dunnen
00415660	Fam2	PubMed: Kuipers 2009, Journal: Kuipers 2009, PubMed: van de Vijver 2012, Journal: van de Vijver 2012	-	M	-	Turkey	-	-	-	-	-	GAMOS2	see paper; ...	FERMT3	FERMT3	1	1	Johan den Dunnen
00415661	Fam3	PubMed: Kuipers 2009, Journal: Kuipers 2009, PubMed: van de Vijver 2012, Journal: van de Vijver 2012	-	M	-	Turkey	-	-	-	-	-	GAMOS2	see paper; ...	FERMT3	FERMT3	1	1	Johan den Dunnen
00415662	Fam4	PubMed: Kuipers 2009, Journal: Kuipers 2009, PubMed: van de Vijver 2012, Journal: van de Vijver 2012	family, 2 affected sibs	M	-	Turkey	-	-	-	-	-	GAMOS2	see paper; ...	FERMT3	FERMT3	1	1	Johan den Dunnen
00415663	-	PubMed: Kuipers 2009, Journal: Kuipers 2009, PubMed: van de Vijver 2012, Journal: van de Vijver 2012, PubMed: Svensson 2009, Journal: Svensson 2009	-	M	-	Turkey	-	-	-	-	-	GAMOS2	see paper; ...	FERMT3	FERMT3	1	1	Johan den Dunnen
00415664	Fam6	PubMed: Kuipers 2009, Journal: Kuipers 2009, PubMed: van de Vijver 2012, Journal: van de Vijver 2012	family, 2 affected sibs	F	-	Turkey	-	-	-	-	-	GAMOS2	see paper; ...	FERMT3	FERMT3	1	1	Johan den Dunnen
00415665	Fam5	PubMed: Kuipers 2009, Journal: Kuipers 2009, PubMed: van de Vijver 2012, Journal: van de Vijver 2012	-	M	-	Turkey	-	-	-	-	-	GAMOS2	see paper; ...	FERMT3	FERMT3	1	1	Johan den Dunnen
00415666	Fam8	PubMed: Kuipers 2009, Journal: Kuipers 2009, PubMed: van de Vijver 2012, Journal: van de Vijver 2012	-	F	-	Turkey	-	-	-	-	-	GAMOS2	see paper; ...	FERMT3	FERMT3	1	1	Johan den Dunnen
00415667	Fam9	PubMed: Kuipers 2009, Journal: Kuipers 2009, PubMed: van de Vijver 2012, Journal: van de Vijver 2012, PubMed: Manevich-Mendelson 2009, Journal: Manevich-Mendelson 2009	family, 2 affected brothers	F	-	-	Arab	-	-	-	-	GAMOS2	see paper; ...	FERMT3	FERMT3	1	1	Johan den Dunnen
00415668	Fam1	PubMed: Svensson 2009, Journal: Svensson 2009, PubMed: van de Vijver 2012, Journal: van de Vijver 2012	-	-	-	Malta	-	-	-	-	-	GAMOS2	see paper; ...	FERMT3	FERMT3	1	1	Johan den Dunnen
00415669	Fam3	PubMed: Svensson 2009, Journal: Svensson 2009, PubMed: van de Vijver 2012, Journal: van de Vijver 2012	-	-	-	Turkey	-	-	-	-	-	GAMOS2	see paper; ...	FERMT3	FERMT3	1	1	Johan den Dunnen
00415670	-	PubMed: Malinin, Journal: Malinin, PubMed: van de Vijver 2012, Journal: van de Vijver 2012	family, 2 affected sibs (F, M)	F;M	-	-	Arab	-	-	-	-	GAMOS2	see paper; ...	FERMT3	FERMT3	1	1	Johan den Dunnen
00415671	-	PubMed: McDowall 2010, Journal: McDowall 2010, PubMed: van de Vijver 2012, Journal: van de Vijver 2012	-	F	-	United States	African American	-	-	-	-	GAMOS2	see paper; ...	FERMT3	FERMT3	2	1	Johan den Dunnen
00415672	FamPatVS/AKS	PubMed: Jurk 2010, Journal: Jurk 2010, PubMed: van de Vijver 2012, Journal: van de Vijver 2012	family, 2 affected brothers	M	-	Germany	-	-	-	-	-	GAMOS2	see paper; ...	FERMT3	FERMT3	1	1	Johan den Dunnen
00415673	-	PubMed: van de Vijver 2012, Journal: van de Vijver 2012	-	M	-	(Turkey)	-	-	-	-	-	GAMOS2	see paper; ...	FERMT3	FERMT3	1	1	Johan den Dunnen
00415674	-	PubMed: van de Vijver 2012, Journal: van de Vijver 2012	-	M	-	(Turkey)	-	-	-	-	-	GAMOS2	see paper; ...	FERMT3	FERMT3	1	1	Johan den Dunnen
00415675	-	PubMed: Robert 2011, Journal: Robert 2011, PubMed: van de Vijver 2012, Journal: van de Vijver 2012	-	M	-	France	gypsy	-	-	-	-	GAMOS2	see paper; ...	FERMT3	FERMT3	1	1	Johan den Dunnen
00415676	-	PubMed: Harris 2012, Journal: Harris 2012	family, 2 affected sibs (2M)	M	-	Mexico	-	-	-	-	-	GAMOS2	see paper; ...	FERMT3	FERMT3	1	1	Johan den Dunnen
00415677	-	PubMed: Roos 2023, Journal: Roos 2023	vdVijver thesis, patient KSeeger	-	-	-	-	-	-	-	-	GAMOS2	see paper; ...	FERMT3	FERMT3	2	1	Johan den Dunnen
00415678	-	PubMed: Roos 2023, Journal: Roos 2023	vdVijver thesis, patient CLB	-	-	Egypt	-	-	-	-	-	GAMOS2	see paper; ...	FERMT3	FERMT3	1	1	Johan den Dunnen
00415679	-	PubMed: Roos 2023, Journal: Roos 2023	vdVijver thesis, patient CLB	-	-	Libya	-	-	-	-	-	GAMOS2	see paper; ...	FERMT3	FERMT3	1	1	Johan den Dunnen
00415680	-	PubMed: Meller 20212, Journal: Meller 20212	-	-	-	Sudan	-	-	-	-	-	GAMOS2	see paper; ...	FERMT3	FERMT3	1	1	Johan den Dunnen
00415681	-	PubMed: Roos 2023, Journal: Roos 2023	Parvanneh unpubl.	M	-	Iran	-	-	-	-	-	GAMOS2	see paper; ...	FERMT3	FERMT3	1	1	Johan den Dunnen
00415682	-	PubMed: Roos 2023, Journal: Roos 2023	-	M	-	-	-	-	-	-	-	GAMOS2	see paper; ...	FERMT3	FERMT3	1	1	Johan den Dunnen
00415683	-	PubMed: Aygun 2017, Journal: Aygun 2017	family, 2 affected sibs (2M)	F;M	-	Turkey	-	-	-	-	-	GAMOS2	see paper; ...	FERMT3	FERMT3	1	1	Johan den Dunnen
00415684	-	PubMed: Crazzolara 2015, Journal: Crazzolara 2015	-	F	-	-	-	-	-	-	-	GAMOS2	see paper; ...	FERMT3	FERMT3	1	1	Johan den Dunnen
00415685	Pat1	PubMed: Essa 2020, Journal: Essa 2020	-	M	-	-	Arab	-	-	-	-	GAMOS2	see paper; ...	FERMT3	FERMT3	1	1	Johan den Dunnen
00415686	Pat2	PubMed: Essa 2020, Journal: Essa 2020	-	F	-	-	Arab	-	-	-	-	GAMOS2	see paper; ...	FERMT3	FERMT3	1	1	Johan den Dunnen
00415687	Pat3	PubMed: Essa 2020, Journal: Essa 2020	-	F	-	-	Arab	-	-	-	-	GAMOS2	see paper; ...	FERMT3	FERMT3	1	1	Johan den Dunnen
00415688	Pat25	PubMed: Wolach 2019, Journal: Wolach 2019	-	F	-	Israel	Arab	-	-	-	-	GAMOS2	see paper; ...	FERMT3	FERMT3	1	1	Johan den Dunnen
00415689	Pat26	PubMed: Wolach 2019, Journal: Wolach 2019	-	F	-	Israel	Arab	-	-	-	-	GAMOS2	see paper; ...	FERMT3	FERMT3	1	1	Johan den Dunnen
00415690	Pat27	PubMed: Stepensky 2015, Journal: Stepensky 2015, PubMed: Wolach 2019, Journal: Wolach 2019	-	M	-	Israel	Arab	-	-	-	-	GAMOS2	see paper; ...	FERMT3	FERMT3	1	1	Johan den Dunnen
00415691	Pat28	PubMed: Stepensky 2015, Journal: Stepensky 2015, PubMed: Wolach 2019, Journal: Wolach 2019	-	M	-	Israel	Arab	-	-	-	-	GAMOS2	see paper; ...	FERMT3	FERMT3	1	1	Johan den Dunnen
00415692	Pat29	PubMed: Stepensky 2015, Journal: Stepensky 2015, PubMed: Wolach 2019, Journal: Wolach 2019	-	F	-	Israel	Arab	-	-	-	-	GAMOS2	see paper; ...	FERMT3	FERMT3	1	1	Johan den Dunnen
00415693	-	PubMed: Shahid 2019, Journal: Shahid 2019	-	M	-	Pakistan	-	-	-	-	-	GAMOS2	see paper; ...	FERMT3	FERMT3	1	1	Johan den Dunnen
00415694	-	PubMed: Palagano 2017, Journal: Palagano 2017	-	F	-	Pakistan	-	-	-	-	-	GAMOS2	see paper; ...	FERMT3	FERMT3	1	1	Johan den Dunnen
00415695	-	PubMed: Suratannon 2016, Journal: Suratannon 2016	-	F	-	Thailand	-	-	-	-	-	GAMOS2	see paper; ...	FERMT3	FERMT3	1	1	Johan den Dunnen
00415696	Pat128	PubMed: Kambli 2020, Journal: Kambli 2020	-	F	-	India	-	-	-	-	-	GAMOS2	see paper; ...	FERMT3	FERMT3	1	1	Johan den Dunnen
00415697	Pat129	PubMed: Kambli 2020, Journal: Kambli 2020	-	M	-	India	-	-	-	-	-	GAMOS2	see paper; ...	FERMT3	FERMT3	1	1	Johan den Dunnen
00415698	Pat130	PubMed: Kambli 2020, Journal: Kambli 2020	-	M	-	India	-	-	-	-	-	GAMOS2	see paper; ...	FERMT3	FERMT3	1	1	Johan den Dunnen
00415699	Pat131	PubMed: Kambli 2020, Journal: Kambli 2020	-	M	-	India	-	-	-	-	-	GAMOS2	see paper; ...	FERMT3	FERMT3	1	1	Johan den Dunnen
00415700	Pat132	PubMed: Kambli 2020, Journal: Kambli 2020	-	M	-	India	-	-	-	-	-	GAMOS2	see paper; ...	FERMT3	FERMT3	1	1	Johan den Dunnen
00415701	Pat1	PubMed: Manukjan 2020, Journal: Manukjan 2020	-	F	-	Libya	-	-	-	-	-	GAMOS2	see paper; ...	FERMT3	FERMT3	1	1	Johan den Dunnen
00415702	-	PubMed: Yahya 2021, Journal: Yahya 2021	-	M	-	India	-	-	-	-	-	GAMOS2	see paper; ...	FERMT3	FERMT3	2	1	Johan den Dunnen
00415703	-	PubMed: Roos 2023, Journal: Roos 2023	Köker unpubl.	M	-	Turkey	-	-	-	-	-	GAMOS2	see paper; ...	FERMT3	FERMT3	1	1	Johan den Dunnen
00415704	-	PubMed: Roos 2023, Journal: Roos 2023	Köker unpubl.	M	-	Syria	-	-	-	-	-	GAMOS2	see paper; ...	FERMT3	FERMT3	1	1	Johan den Dunnen
00415705	Pat7	PubMed: Qureshi 2020, Journal: Qureshi 2020	-	F	-	Pakistan	-	-	-	-	-	GAMOS2	see paper; ...	FERMT3	FERMT3	1	1	Johan den Dunnen
00415706	-	PubMed: Roos 2023, Journal: Roos 2023	Rawat unpubl.	F	-	India	-	-	-	-	-	GAMOS2	see paper; ...	FERMT3	FERMT3	1	1	Johan den Dunnen
00415707	-	PubMed: Roos 2023, Journal: Roos 2023	Kanegane unpubl.	F	-	Japan	-	-	-	-	-	GAMOS2	see paper; ...	FERMT3	FERMT3	1	1	Johan den Dunnen
00415708	-	PubMed: Platt 2021, Journal: Platt 2021	-	F	-	Pakistan	-	-	-	-	-	GAMOS2	see paper; ...	FERMT3	FERMT3	1	1	Johan den Dunnen
00415709	-	PubMed: Platt 2021, Journal: Platt 2021	-	F	-	-	Arab	-	-	-	-	GAMOS2	see paper; ...	FERMT3	FERMT3	1	1	Johan den Dunnen
00415710	-	PubMed: Takata 2019, Journal: Takata 2019	carrier?	-	-	-	-	-	-	-	-	GAMOS2	see paper; ...	FERMT3	FERMT3	1	1	Johan den Dunnen
00415711	PatAC	PubMed: Lübke 2001, Journal: Lübke 2001, PubMed: van de Vijver 2012, Journal: van de Vijver 2012, PubMed: Lühn 2001, Journal: Lühn 2001	-	M	-	Turkey	-	-	-	-	-	GAMOS2	see paper; ...	SLC35C1	SLC35C1	1	1	Johan den Dunnen
00415712	PatM	PubMed: Lübke 2001, Journal: Lübke 2001, PubMed: van de Vijver 2012, Journal: van de Vijver 2012	-	M	-	-	Arab	-	-	-	-	GAMOS2	see paper; ...	SLC35C1	SLC35C1	1	1	Johan den Dunnen
00415713	-	PubMed: Lübke 2001, Journal: Lübke 2001, PubMed: van de Vijver 2012, Journal: van de Vijver 2012, PubMed: Etzoni 2002, Journal: Etzoni 2002	-	M	-	Israel	Arab;Muslim	-	-	-	-	GAMOS2	see paper; ...	SLC35C1	SLC35C1	1	1	Johan den Dunnen
00415714	-	PubMed: Lübke 2001, Journal: Lübke 2001, PubMed: van de Vijver 2012, Journal: van de Vijver 2012, PubMed: Etzoni 2002, Journal: Etzoni 2002	-	F	-	Israel	Arab;Muslim	-	-	-	-	GAMOS2	see paper; ...	SLC35C1	SLC35C1	1	1	Johan den Dunnen
00415715	-	PubMed: Lübke 2001, Journal: Lübke 2001, PubMed: van de Vijver 2012, Journal: van de Vijver 2012, PubMed: Etzoni 2002, Journal: Etzoni 2002	-	F	-	Israel	Arab;Muslim	-	-	-	-	GAMOS2	see paper; ...	SLC35C1	SLC35C1	1	1	Johan den Dunnen
00415716	-	PubMed: Wolach 2019, Journal: Wolach 2019, PubMed: van de Vijver 2012, Journal: van de Vijver 2012	-	F	-	Israel	Arab	-	-	-	-	GAMOS2	see paper; ...	SLC35C1	SLC35C1	1	1	Johan den Dunnen
00415717	-	PubMed: Hidalgo 2003, Journal: Hidalgo 2003, PubMed: van de Vijver 2012, Journal: van de Vijver 2012	-	M	-	Brazil	-	-	-	-	-	GAMOS2	see paper; ...	SLC35C1	SLC35C1	1	1	Johan den Dunnen
00415718	-	PubMed: Helmus 2006, Journal: Helmus 2006, PubMed: van de Vijver 2012, Journal: van de Vijver 2012	-	F	-	Pakistan	-	-	-	-	-	GAMOS2	see paper; ...	SLC35C1	SLC35C1	1	1	Johan den Dunnen
00415719	-	PubMed: Gazit 2010, Journal: Gazit 2010, PubMed: van de Vijver 2012, Journal: van de Vijver 2012	-	M	-	Israel	Arab	-	-	-	-	GAMOS2	see paper; ...	SLC35C1	SLC35C1	1	1	Johan den Dunnen
00415720	-	PubMed: Cagdas 2014, Journal: Cagdas 2014	family, 2 affected sibs (F, M)	F;M	-	Turkey	-	-	-	-	-	GAMOS2	see paper; ...	SLC35C1	SLC35C1	1	1	Johan den Dunnen
00415721	-	PubMed: Cooper 2020, Journal: Cooper 2020	-	M	-	-	white	-	-	-	-	GAMOS2	see paper; ...	SLC35C1	SLC35C1	2	1	Johan den Dunnen
00415722	-	PubMed: Jones 2013, Journal: Jones 2013, PubMed: Dauber 2014, Journal: Dauber 2014	family, 2 affected sibs (2M)	M	-	-	white	-	-	-	-	GAMOS2	see paper; ...	SLC35C1	SLC35C1	2	1	Johan den Dunnen
00415723	LAD3	PubMed: Grabowski 2019, Journal: Grabowski 2019	-	M	-	-	-	-	-	-	-	GAMOS2	see paper; ...	SLC35C1	SLC35C1	1	1	Johan den Dunnen
00415724	PatI	PubMed: Roos 2023, Journal: Roos 2023	-	M	-	Iran	-	-	-	-	-	GAMOS2	see paper; ...	SLC35C1	SLC35C1	1	1	Johan den Dunnen
00415725	-	PubMed: Knapp 2020, Journal: Knapp 2020	-	F	-	-	white	-	-	-	-	GAMOS2	see paper; ...	SLC35C1	SLC35C1	2	1	Johan den Dunnen
00415726	-	PubMed: Tahata 2022, Journal: Tahata 2022, PubMed: Starosta 2021, Journal: Starosta 2021, PubMed: Klee 2021, Journal: Klee 2021	family, 2 affected sibs (2F)	F	-	-	-	-	-	-	-	GAMOS2	see paper; ...	SLC35C1	SLC35C1	2	1	Johan den Dunnen
00415727	-	PubMed: Tahata 2022, Journal: Tahata 2022	-	M	-	-	white	-	-	-	-	GAMOS2	see paper; ...	SLC35C1	SLC35C1	2	1	Johan den Dunnen
00415728	-	PubMed: Dyment 2021, Journal: Dyment 2021	-	M	-	Iran	-	-	-	-	-	GAMOS2	see paper; ...	SLC35C1	SLC35C1	1	1	Johan den Dunnen

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Global Variome shared LOVD

KPTN (kaptin (actin binding protein))