Disease #05415 (USH (Usher syndrome (USH)))

Official abbreviation	USH
Name	Usher syndrome (USH)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	457
Phenotype entries for this disease	455
Associated with 10 genes	ARSG, CDH23, CIB2, CLRN1, GPR98, MYO7A, PCDH15, USH1C, USH1G, USH2A
Associated tissues	-
Disease features	-
Remarks	-
Date created	2018-04-02 16:40:44 +02:00 (CEST)
Date last edited	N/A

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

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.

457 entries on 5 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5		Next ›	Last »

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
00163142	-	PubMed: Bashir et al., 2010	proband	F	-	Pakistan	-	-	-	-	-	USH	-	USH1G	USH1G	1	1	Anne-Françoise Roux
00163143	-	PubMed: Bashir et al., 2010	relative	M	-	Pakistan	-	-	-	-	-	USH	-	USH1G	USH1G	1	1	Anne-Françoise Roux
00163144	-	PubMed: Bashir et al., 2010	relative	M	-	Pakistan	-	-	-	-	-	USH	-	USH1G	USH1G	1	1	Anne-Françoise Roux
00163145	-	PubMed: Bashir et al., 2010	relative	F	-	Pakistan	-	-	-	-	-	USH	-	USH1G	USH1G	1	1	Anne-Françoise Roux
00163180	-	PubMed: Kalay et al., 2005	proband	F	-	Turkey	-	-	-	-	-	USH	-	USH1G	USH1G	1	1	Anne-Françoise Roux
00163181	-	PubMed: Kalay et al., 2005	relative	M	-	Turkey	-	-	-	-	-	USH	-	USH1G	USH1G	1	1	Anne-Françoise Roux
00163182	-	PubMed: Kalay et al., 2005	relative	F	-	Turkey	-	-	-	-	-	USH	-	USH1G	USH1G	1	1	Anne-Françoise Roux
00163183	-	PubMed: Kalay et al., 2005	relative	F	-	Turkey	-	-	-	-	-	USH	-	USH1G	USH1G	1	1	Anne-Françoise Roux
00163184	-	PubMed: Kalay et al., 2005	relative	F	-	Turkey	-	-	-	-	-	USH	-	USH1G	USH1G	1	1	Anne-Françoise Roux
00163185	-	PubMed: Kalay et al., 2005	relative	M	-	Turkey	-	-	-	-	-	USH	-	USH1G	USH1G	1	1	Anne-Françoise Roux
00163308	-	PubMed: Glöcke et al., 2013	proband	-	-	-	-	-	-	-	-	USH	-	DFNB31	DFNB31	1	1	Anne-Françoise Roux
00163332	-	PubMed: Le Quesne Stabej et al., 2012	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	USH	-	DFNB31	DFNB31	1	1	Maria Bitner-Glindzicz
00165705	-	PubMed: Bolz 2001	Proband	M	-	Cuba	-	-	-	-	-	USH	-	-	CDH23	2	1	Anne-Françoise Roux
00165706	-	PubMed: Bolz 2001	Relative	M	-	Cuba	-	-	-	-	-	USH	-	-	CDH23	2	1	Anne-Françoise Roux
00165798	-	PubMed: Bork 2001	Proband	M	-	Pakistan	-	-	-	-	-	USH	-	-	CDH23	2	1	Anne-Françoise Roux
00165799	-	PubMed: Bork 2001	Relative	M	-	Pakistan	-	-	-	-	-	USH	-	-	CDH23	2	1	Anne-Françoise Roux
00165800	-	PubMed: Bork 2001	Relative	M	-	Pakistan	-	-	-	-	-	USH	-	-	CDH23	2	1	Anne-Françoise Roux
00165801	-	PubMed: Bork 2001	Relative	F	-	Pakistan	-	-	-	-	-	USH	-	-	CDH23	2	1	Anne-Françoise Roux
00165802	-	PubMed: Bork 2001	Relative	F	-	Pakistan	-	-	-	-	-	USH	-	-	CDH23	2	1	Anne-Françoise Roux
00165803	-	PubMed: Bork 2001	Relative	M	-	Pakistan	-	-	-	-	-	USH	-	-	CDH23	2	1	Anne-Françoise Roux
00165804	-	PubMed: Bork 2001	Relative	M	-	Pakistan	-	-	-	-	-	USH	-	-	CDH23	2	1	Anne-Françoise Roux
00165828	-	PubMed: Astuto 2002	Proband	-	-	-	European	-	-	-	-	USH	-	-	CDH23	1	1	Anne-Françoise Roux
00165829	-	PubMed: Astuto 2002	Proband	-	-	-	Jewish-Sephardic	-	-	-	-	USH	-	-	CDH23	1	1	Anne-Françoise Roux
00165830	-	PubMed: Astuto 2002	Relative	-	-	-	Jewish-Sephardic	-	-	-	-	USH	-	-	CDH23	1	1	Anne-Françoise Roux
00165832	-	PubMed: Astuto 2002	Proband	-	-	Netherlands	-	-	-	-	-	USH	-	-	CDH23	1	1	Anne-Françoise Roux
00165833	-	PubMed: Astuto 2002	Relative	-	-	Netherlands	-	-	-	-	-	USH	-	-	CDH23	1	1	Anne-Françoise Roux
00165834	-	PubMed: Astuto 2002	Proband	-	-	Netherlands	-	-	-	-	-	USH	-	-	CDH23	1	1	Anne-Françoise Roux
00165835	-	PubMed: Astuto 2002	Relative	-	-	Netherlands	-	-	-	-	-	USH	-	-	CDH23	1	1	Anne-Françoise Roux
00165838	-	PubMed: Astuto 2002	Proband	-	-	-	European	-	-	-	-	USH	-	-	CDH23	1	1	Anne-Françoise Roux
00165839	-	PubMed: Astuto 2002	Relative	-	-	-	European	-	-	-	-	USH	-	-	CDH23	1	1	Anne-Françoise Roux
00165840	-	PubMed: Astuto 2002	Proband	-	-	Sweden	-	-	-	-	-	USH	-	-	CDH23	2	1	Anne-Françoise Roux
00165841	-	PubMed: Astuto 2002	Relative	-	-	Sweden	-	-	-	-	-	USH	-	-	CDH23	2	1	Anne-Françoise Roux
00165850	-	PubMed: Astuto 2002	Proband	-	-	Sweden	-	-	-	-	-	USH	-	-	CDH23	2	1	Anne-Françoise Roux
00165851	-	PubMed: Astuto 2002	Relative	-	-	Sweden	-	-	-	-	-	USH	-	-	CDH23	2	1	Anne-Françoise Roux
00165865	-	PubMed: Astuto 2002	Proband	-	-	-	European	-	-	-	-	USH	-	-	CDH23	2	1	Anne-Françoise Roux
00165866	-	PubMed: Astuto 2002	Relative	-	-	-	European	-	-	-	-	USH	-	-	CDH23	2	1	Anne-Françoise Roux
00165867	-	PubMed: Astuto 2002	Proband	-	-	-	European	-	-	-	-	USH	-	-	CDH23	2	1	Anne-Françoise Roux
00165868	-	PubMed: Astuto 2002	Relative	-	-	-	European	-	-	-	-	USH	-	-	CDH23	2	1	Anne-Françoise Roux
00165869	-	PubMed: Astuto 2002	Proband	-	-	-	-	-	-	-	-	USH	-	-	CDH23	2	1	Anne-Françoise Roux
00165872	-	PubMed: Astuto 2002	Proband	-	-	Germany	-	-	-	-	-	USH	-	-	CDH23	1	1	Anne-Françoise Roux
00165874	-	PubMed: Astuto 2002	Proband	-	-	Spain	-	-	-	-	-	USH	-	-	CDH23	2	1	Anne-Françoise Roux
00165875	-	PubMed: Astuto 2002	Relative	-	-	Spain	-	-	-	-	-	USH	-	-	CDH23	2	1	Anne-Françoise Roux
00165880	-	PubMed: Astuto 2002	Proband	-	-	-	European	-	-	-	-	USH	-	-	CDH23	2	1	Anne-Françoise Roux
00165881	-	PubMed: Astuto 2002	Proband	-	-	-	European	-	-	-	-	USH	-	-	CDH23	1	1	Anne-Françoise Roux
00165882	-	PubMed: Astuto 2002	Relative	-	-	-	European	-	-	-	-	USH	-	-	CDH23	1	1	Anne-Françoise Roux
00165883	-	PubMed: Astuto 2002	Proband	-	-	-	European	-	-	-	-	USH	-	-	CDH23	2	1	Anne-Françoise Roux
00165884	-	PubMed: Astuto 2002	Relative	-	-	-	European	-	-	-	-	USH	-	-	CDH23	2	1	Anne-Françoise Roux
00165886	-	PubMed: Astuto 2002	Proband	-	-	Ireland	-	-	-	-	-	USH	-	-	CDH23	2	1	Anne-Françoise Roux
00165887	-	PubMed: Astuto 2002	Relative	-	-	Ireland	-	-	-	-	-	USH	-	-	CDH23	2	1	Anne-Françoise Roux
00165889	-	PubMed: Astuto 2002	Proband	-	-	Sweden	-	-	-	-	-	USH	-	-	CDH23	1	1	Anne-Françoise Roux
00165969	Fam1PatV1	PubMed: Bitner-Glindzicz 2000	5-generation family, 2 affected (F, M), proband	M	-	-	-	-	-	-	-	USH	-	-	ABCC8, USH1C	1	2	Anne-Françoise Roux
00165970	Fam2PatIV2	PubMed: Bitner-Glindzicz 2000	4-generation family, 4 affected (2f, 2M), proband	F	-	-	-	-	-	-	-	USH	-	-	ABCC8, USH1C	1	1	Anne-Françoise Roux
00165971	Fam2PatIV4	PubMed: Bitner-Glindzicz 2000	relative	M	-	-	-	-	-	-	-	USH	-	-	ABCC8, USH1C	1	1	Anne-Françoise Roux
00166615	-	PubMed: Le Quesne Stabej 2012	Proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	USH	-	-	PCDH15, USH2A	7	1	Maria Bitner-Glindzicz
00166624	-	PubMed: Le Quesne Stabej 2012	Proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	USH	-	-	GPR98, MYO7A, USH2A	4	1	Maria Bitner-Glindzicz
00166631	-	PubMed: Le Quesne Stabej 2012	Proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	USH	-	-	CDH23, MYO7A	7	1	Maria Bitner-Glindzicz
00166655	-	PubMed: Le Quesne Stabej 2012	Proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	USH	-	-	PCDH15, USH1C, USH2A	3	1	Maria Bitner-Glindzicz
00166658	-	PubMed: Le Quesne Stabej 2012	Proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	USH	-	-	CDH23, MYO7A, USH1C, USH2A	8	1	Maria Bitner-Glindzicz
00166700	-	PubMed: Le Quesne Stabej 2012	Proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	USH	-	-	CDH23, GPR98, USH2A	10	1	Maria Bitner-Glindzicz
00166701	-	PubMed: Le Quesne Stabej 2012	Proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	USH	-	-	CDH23	2	1	Maria Bitner-Glindzicz
00166720	-	PubMed: Le Quesne Stabej 2012	Proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	USH	-	-	CDH23, MYO7A, USH1C, USH2A	7	1	Maria Bitner-Glindzicz
00166735	-	PubMed: Le Quesne Stabej 2012	Proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	USH	-	-	CDH23, MYO7A, PCDH15, USH2A	6	1	Maria Bitner-Glindzicz
00166736	-	PubMed: Le Quesne Stabej 2012	Proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	USH	-	-	CDH23, GPR98, USH1C, USH2A	4	1	Maria Bitner-Glindzicz
00167152	-	PubMed: Glöcke 2013	Proband	-	-	-	-	-	-	-	-	USH	-	-	CDH23, USH2A	3	1	Anne-Françoise Roux
00167153	-	PubMed: Glöcke 2013	Proband	-	-	-	-	-	-	-	-	USH	-	-	GPR98	2	1	Anne-Françoise Roux
00168045	IRD4.0_#41	Manuscript under review (González-del Pozo et al., 2018)	-	?	?	Spain	-	-	-	-	-	USH	-	USH2A	USH2A	2	1	María González-del Pozo
00168048	IRD4.0_#16	Manuscript under review (González-del Pozo et al., 2018)	-	?	?	Spain	-	-	-	-	-	USH	-	USH2A	USH2A	2	1	María González-del Pozo
00168050	IRD4.0_#3	Manuscript under review (González-del Pozo et al., 2018)	-	?	yes	Spain	-	-	-	-	-	USH	-	USH2A	USH2A	1	1	María González-del Pozo
00168140	?;USH1-7	PubMed: Janecke 1999, PubMed: Dad 2016	proband	M	-	Denmark	-	-	-	-	-	USH	congenital night blindness; no cataract; congenital severe to profound hearing impairment; vestibular dysfunction	-	MYO7A	2	1	Anne-Françoise Roux
00168946	-	PubMed: Liu 1999	Proband	-	-	China	-	-	-	-	-	USH	-	-	USH2A	2	1	Anne-Françoise Roux
00169183	-	PubMed: Aller 2004	Proband	M	-	Spain	-	-	-	-	-	USH	-	-	USH2A	4	1	Jose Maria Millan
00169198	-	PubMed: Jaijo 2010	Proband	F	-	Spain	-	-	-	-	-	USH	-	-	USH2A	2	1	Jose Maria Millan
00169209	-	PubMed: Aller 2004	Proband	M	-	Spain	-	-	-	-	-	USH	-	-	USH2A	3	1	Jose Maria Millan
00169221	-	PubMed: Jaijo 2010	Proband	M	-	Spain	-	-	-	-	-	USH	-	-	USH2A	21	1	Jose Maria Millan
00169287	-	PubMed: Liu 1999	Proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	USH	-	-	USH2A	2	1	Anne-Françoise Roux
00169291	-	PubMed: Liu 1999	Proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	USH	-	-	USH2A	2	1	Anne-Françoise Roux
00169292	-	PubMed: Liu 1999	Relative	-	-	United Kingdom (Great Britain)	-	-	-	-	-	USH	-	-	USH2A	2	1	Anne-Françoise Roux
00169295	-	PubMed: Liu 1999	Proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	USH	-	-	USH2A	1	1	Anne-Françoise Roux
00169632	-	PubMed: Garcia-Garcia 2011	Proband	-	-	Spain	-	-	-	-	-	USH	-	-	USH2A	15	1	Jose Maria Millan
00170119	-	PubMed: Le Quesne Stabej 2012	Proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	USH	-	-	USH2A	1	1	Maria Bitner-Glindzicz
00170150	-	PubMed: Garcia-Garcia 2011	Proband	M	-	Spain	-	-	-	-	-	USH	-	-	USH2A	6	1	Jose Maria Millan
00170152	-	PubMed: Garcia-Garcia 2011	Proband	F	-	Spain	-	-	-	-	-	USH	-	-	USH2A	3	1	Jose Maria Millan
00170222	-	PubMed: Xu 2011	Proband	M	-	China	-	-	-	-	-	USH	-	-	USH2A	2	1	Anne-Françoise Roux
00170233	-	PubMed: Besnard, Garcia-Garcia 2014	Proband	F	-	France	-	-	-	-	-	USH	-	-	USH2A	5	1	Anne-Françoise Roux
00207591	-	-	-	F	-	-	-	-	-	-	-	USH	-	-	CDH23	2	4	Marta de Castro-Miró
00289371	Fam	PubMed: Lentz 2005	lymphoblast cell lines from the Coriell cell repository for three Acadian Usher patients and unaffected family members (Family 1: GM09070, GM09071 and GM09072; Family 2: GM09456, GM09458 and GM09459; Family 3: GM10354 and GM10359)	-	-	United States	-	-	-	-	-	USH	-	USH1C	USH1C	1	1	Johan den Dunnen
00308784	FamUS-2	PubMed: Santana 2019	3-generation family, 4 affected (F, 3M), unaffected parents	-	-	Cuba	white	-	-	-	-	USH	see paper; ...	GPR98	GPR98	1	4	Global Variome, with Curator vacancy
00308785	FamUS-4	PubMed: Santana 2019	3-generation family, 2 affected 2M), unaffected parents	-	-	Cuba	white	-	-	-	-	USH	see paper; ...	CDH23	CDH23	2	2	Global Variome, with Curator vacancy
00308786	FamUS-5	PubMed: Santana 2019	3-generation family, 2 affected (F), unaffected parents	F	-	Cuba	white	-	-	-	-	USH	see paper; ...	CDH23	CDH23	1	1	Global Variome, with Curator vacancy
00308787	FamUS-6	PubMed: Santana 2019	2-generation family, 2 affected (F, M), unaffected parents	-	yes	Cuba	white	-	-	-	-	USH	see paper; ...	CDH23	CDH23	1	2	Global Variome, with Curator vacancy
00308788	FamUS-7	PubMed: Santana 2019	2-generation family, 1 affected (F), unaffected parents	F	-	Cuba	white	-	-	-	-	USH	see paper; ...	CDH23	CDH23	2	1	Global Variome, with Curator vacancy
00308789	FamUS-8	PubMed: Santana 2019	3-generation family, 4 affected (F, 3M), unaffected parents	-	yes	Cuba	white	-	-	-	-	USH	see paper; ...	CLRN1	CLRN1	1	4	Global Variome, with Curator vacancy
00308790	FamUS-9	PubMed: Santana 2019	3-generation family, 4 affected (F, 3M), unaffected parents	-	yes	Cuba	white	-	-	-	-	USH	see paper; ...	USH2A	USH2A	1	4	Global Variome, with Curator vacancy
00308791	FamUS-10	PubMed: Santana 2019	2-generation family, 3 affected (2F, M), unaffected parents	-	-	Cuba	white	-	-	-	-	USH	see paper; ...	PCDH15	PCDH15	1	3	Global Variome, with Curator vacancy
00308792	FamUS-11	PubMed: Santana 2019	2-generation family, 1 affected (F), unaffected parents	F	-	Cuba	white	-	-	-	-	USH	see paper; ...	CDH23	CDH23	1	1	Global Variome, with Curator vacancy
00308793	FamUS-12	PubMed: Santana 2019	2-generation family, 1 affected (M), unaffected parents	M	yes	Cuba	white	-	-	-	-	USH	see paper; ...	CLRN1	CLRN1	1	1	Global Variome, with Curator vacancy
00308794	FamUS-16	PubMed: Santana 2019	3-generation family, 4 affected (2F, 2M), unaffected parents	-	-	Cuba	white	-	-	-	-	USH	see paper; ...	USH2A	USH2A	1	4	Global Variome, with Curator vacancy
00309540	Fam1	PubMed: Fu 2017	2-generation family, 2 affected sisters, unaffected parents	F	yes	China	-	-	-	-	-	USH	see paper; ...	CEP78	CEP78	1	2	Johan den Dunnen
00309541	Fam2	PubMed: Fu 2017	5-generation family, 2 affected (F, M), unaffected parents	F;M	yes	China	-	-	-	-	-	USH	see paper; ...	CEP78	CEP78	1	2	Johan den Dunnen
00320427	10DF10800_a	PubMed: Alzahrani 2020, Journal: Alzahrani 2020	2-generation family, affected sister/brother, unaffected heterozygous carrier parents	F	yes	Saudi Arabia	-	-	-	-	-	?, USH	atrial septal defect, ventricular septal defect; facial dysmorphism; global developmental delay; microcephaly; short stature; abnormal white matter, brain atrophy; cataract; no genitourinary abnormalities, Usher syndrome	SMG8, USH1G	SMG8, USH1G	2	2	Johan den Dunnen

	Legend	How to query	« First	‹ Prev		1	2	3	4	5		Next ›	Last »

Global Variome shared LOVD

PIP5K1C (phosphatidylinositol-4-phosphate 5-kinase,...)