All individuals with variants in gene USH1G

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.

90 entries on 1 page. Showing entries 1 - 90.

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
00163126	-	PubMed: Bonnet et al., 2016	-	M	-	Italy	-	-	-	-	-	USH1	-	1	1	Crystel Bonnet
00163127	-	PubMed: Yoshimura et al., 2014	proband	-	-	Japan	-	-	-	-	-	USH1	-	1	1	Anne-Françoise Roux
00163128	-	PubMed: Bonnet et al., 2011	proband	-	-	-	-	-	-	-	-	USH1	-	1	1	Anne-Françoise Roux
00163130	-	PubMed: Le Quesne Stabej et al., 2012	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	USH2	-	1	1	Maria Bitner-Glindzicz
00163131	-	PubMed: Bonnet et al., 2011	proband	-	-	-	-	-	-	-	-	USH1	-	1	1	Anne-Françoise Roux
00163132	-	PubMed: Ouyang et al., 2005	proband	-	-	United States	-	-	-	-	-	USH1	-	1	1	Anne-Françoise Roux
00163133	-	PubMed: Ouyang et al., 2005	proband	-	-	United States	-	-	-	-	-	USH1	-	1	1	Anne-Françoise Roux
00163134	-	PubMed: Bonnet et al., 2011	proband	-	-	-	-	-	-	-	-	USH1	-	1	1	Anne-Françoise Roux
00163135	-	PubMed: Bujakowska et al., 2014	proband	M	-	United States	-	-	-	-	-	USH1	-	1	1	Anne-Françoise Roux
00163136	-	PubMed: Bujakowska et al., 2014	relative	M	-	United States	-	-	-	-	-	USH1	-	1	1	Anne-Françoise Roux
00163137	-	PubMed: Bujakowska et al., 2014	relative	F	-	United States	-	-	-	-	-	USH1	-	1	1	Anne-Françoise Roux
00163138	-	PubMed: Bonnet et al., 2016	-	M	-	France	-	-	-	-	-	USH1	-	2	1	Crystel Bonnet
00163139	-	PubMed: Weil et al., 2003	proband	M	-	Germany	-	-	-	-	-	USH1	-	2	1	Anne-Françoise Roux
00163140	-	PubMed: Weil et al., 2003	relative	M	-	Germany	-	-	-	-	-	USH1	-	2	1	Anne-Françoise Roux
00163141	-	PubMed: Krawitz et al., 2014	proband	F	-	Germany	-	-	-	-	-	USH1	-	2	1	Peter Krawitz
00163142	-	PubMed: Bashir et al., 2010	proband	F	-	Pakistan	-	-	-	-	-	USH	-	1	1	Anne-Françoise Roux
00163143	-	PubMed: Bashir et al., 2010	relative	M	-	Pakistan	-	-	-	-	-	USH	-	1	1	Anne-Françoise Roux
00163144	-	PubMed: Bashir et al., 2010	relative	M	-	Pakistan	-	-	-	-	-	USH	-	1	1	Anne-Françoise Roux
00163145	-	PubMed: Bashir et al., 2010	relative	F	-	Pakistan	-	-	-	-	-	USH	-	1	1	Anne-Françoise Roux
00163146	-	PubMed: Le Quesne Stabej et al., 2012	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	USH2	-	1	1	Maria Bitner-Glindzicz
00163147	-	PubMed: Le Quesne Stabej et al., 2012	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	USH2	-	4	1	Maria Bitner-Glindzicz
00163148	-	PubMed: Rizel et al., 2012	proband	M	-	Israel	-	-	-	-	-	USH1	-	1	1	Anne-Françoise Roux
00163149	-	PubMed: Oonk et al., 2014	relative	F	-	Netherlands	-	-	-	-	-	deafness	-	2	1	Anne-Françoise Roux
00163150	-	PubMed: Bonnet et al., 2016	-	M	-	Germany	-	-	-	-	-	USH1	-	2	1	Crystel Bonnet
00163151	-	PubMed: Jaijo et al., 2010	proband	-	-	Spain	-	-	-	-	-	USH1	-	2	1	Jose Maria Millan
00163152	-	PubMed: Le Quesne Stabej et al., 2012	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	USH1	-	2	1	Maria Bitner-Glindzicz
00163153	-	PubMed: Weil et al., 2003	relative	F	-	Tunisia	-	-	-	-	-	USH1	-	1	1	Anne-Françoise Roux
00163154	-	PubMed: Weil et al., 2003	relative	F	-	Tunisia	-	-	-	-	-	USH1	-	1	1	Anne-Françoise Roux
00163155	-	PubMed: Weil et al., 2003	relative	F	-	Tunisia	-	-	-	-	-	USH1	-	1	1	Anne-Françoise Roux
00163156	-	PubMed: Weil et al., 2003	relative	M	-	Tunisia	-	-	-	-	-	USH1	-	1	1	Anne-Françoise Roux
00163157	-	PubMed: Weil et al., 2003	relative	F	-	Tunisia	-	-	-	-	-	USH1	-	1	1	Anne-Françoise Roux
00163158	-	PubMed: Weil et al., 2003	proband	M	-	Tunisia	-	-	-	-	-	USH1	-	1	1	Anne-Françoise Roux
00163159	-	PubMed: Weil et al., 2003	relative	F	-	Tunisia	-	-	-	-	-	USH1	-	1	1	Anne-Françoise Roux
00163160	-	PubMed: Weil et al., 2003	relative	M	-	Tunisia	-	-	-	-	-	USH1	-	1	1	Anne-Françoise Roux
00163161	-	PubMed: Le Quesne Stabej et al., 2012	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	USH1	-	1	1	Maria Bitner-Glindzicz
00163162	-	PubMed: Le Quesne Stabej et al., 2012	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	USH2	-	1	1	Maria Bitner-Glindzicz
00163163	-	PubMed: Le Quesne Stabej et al., 2012	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	USH2	-	1	1	Maria Bitner-Glindzicz
00163164	-	PubMed: Le Quesne Stabej et al., 2012	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	USH2	-	1	1	Maria Bitner-Glindzicz
00163165	-	PubMed: Le Quesne Stabej et al., 2012	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	USH1	-	1	1	Maria Bitner-Glindzicz
00163167	-	PubMed: Imtiaz et al., 2012	proband	F	-	Saudi Arabia	-	-	-	-	-	USH1	-	1	1	Anne-Françoise Roux
00163168	-	PubMed: Imtiaz et al., 2012	relative	M	-	Saudi Arabia	-	-	-	-	-	USH1	-	1	1	Anne-Françoise Roux
00163169	-	PubMed: Imtiaz et al., 2012	relative	F	-	Saudi Arabia	-	-	-	-	-	USH1	-	1	1	Anne-Françoise Roux
00163170	-	PubMed: Bonnet et al., 2016	-	-	-	France	-	-	-	-	-	USH1	-	2	1	Crystel Bonnet
00163171	-	PubMed: Bonnet et al., 2016	proband	F	-	France	-	-	-	-	-	USH2	-	1	1	Crystel Bonnet
00163172	-	PubMed: Aparisi et al., 2014	proband	-	-	Spain	-	-	-	-	-	USH1	-	1	1	Anne-Françoise Roux
00163173	-	PubMed: Weil et al., 2003	proband	-	-	Jordan	-	-	-	-	-	USH1	-	1	1	Anne-Françoise Roux
00163174	-	PubMed: Weil et al., 2003	relative	-	-	Jordan	-	-	-	-	-	USH1	-	1	1	Anne-Françoise Roux
00163175	-	PubMed: Weil et al., 2003	relative	-	-	Jordan	-	-	-	-	-	USH1	-	1	1	Anne-Françoise Roux
00163176	-	PubMed: Le Quesne Stabej et al., 2012	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	USH2	-	1	1	Maria Bitner-Glindzicz
00163177	-	PubMed: Abdi 2016	proband	F	-	Algeria	-	-	-	-	-	USH1	-	1	1	Crystel Bonnet
00163178	-	PubMed: Glöcke et al., 2013	proband	-	-	-	-	-	-	-	-	USH2	-	1	1	Anne-Françoise Roux
00163179	-	PubMed: Lenarduzzi et al., 2015	proband	-	-	Italy	-	-	-	-	-	USH1	-	1	1	Anne-Françoise Roux
00163180	-	PubMed: Kalay et al., 2005	proband	F	-	Turkey	-	-	-	-	-	USH	-	1	1	Anne-Françoise Roux
00163181	-	PubMed: Kalay et al., 2005	relative	M	-	Turkey	-	-	-	-	-	USH	-	1	1	Anne-Françoise Roux
00163182	-	PubMed: Kalay et al., 2005	relative	F	-	Turkey	-	-	-	-	-	USH	-	1	1	Anne-Françoise Roux
00163183	-	PubMed: Kalay et al., 2005	relative	F	-	Turkey	-	-	-	-	-	USH	-	1	1	Anne-Françoise Roux
00163184	-	PubMed: Kalay et al., 2005	relative	F	-	Turkey	-	-	-	-	-	USH	-	1	1	Anne-Françoise Roux
00163185	-	PubMed: Kalay et al., 2005	relative	M	-	Turkey	-	-	-	-	-	USH	-	1	1	Anne-Françoise Roux
00163186	-	PubMed: Le Quesne Stabej et al., 2012	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	USH2	-	1	1	Maria Bitner-Glindzicz
00163187	-	PubMed: Le Quesne Stabej et al., 2012	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	USH2	-	1	1	Maria Bitner-Glindzicz
00163188	-	PubMed: Le Quesne Stabej et al., 2012	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	USH2	-	1	1	Maria Bitner-Glindzicz
00309455	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309572	RP1694	PubMed: Fuster-Garcia 2018	analysis 77 USH patients	-	-	Spain	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309577	RP1806	PubMed: Fuster-Garcia 2018	analysis 77 USH patients	-	-	Spain	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
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	1	2	Johan den Dunnen
00320428	10DF10800_b	PubMed: Alzahrani 2020, Journal: Alzahrani 2020	brother	M	yes	Saudi Arabia	-	-	-	-	-	?, USH	no congenital heart disease; facial dysmorphism; global developmental delay; microcephaly; short stature; abnormal white matter; cataract; hypospadias, Usher syndrome	1	1	Johan den Dunnen
00327013	SB368-719	PubMed: Kim 2022, Journal: Kim 2022	-	-	-	Korea, South (Republic)	-	-	-	-	-	HL	-	2	1	So Young Kim
00328509	13007440	PubMed: Taylor 2017	no family history retinal disease	F	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	retinal dystrophy (HP:0000556), sensorineural hearing impairment (HP:0000407)	1	1	LOVD
00334022	541	PubMed: Stone 2017	1 affected	M	-	(United States)	-	-	-	-	-	retinal disease	clinical category IB1a	1	1	LOVD
00358949	Case71674	PubMed: Tiwari 2016	see paper	F	-	Switzerland	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00362249	Pat17	PubMed: Bahena 2021	-	F	yes	Mexico	-	-	-	-	-	USH	-	1	2	Barbara Vona
00363229	Pat134	PubMed: Neuhaus 2017	-	-	yes	Saudi Arabia	-	-	-	-	-	USH	no retinal dystrophy at time the genetic diagnosis	1	1	LOVD
00363231	PatDEM74	PubMed: Neuhaus 2017	-	-	yes	Pakistan	-	-	-	-	-	USH	-	1	1	LOVD
00373402	FamDF25	PubMed: Riahi 2015	5-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives	F;M	yes	Tunisia	-	-	-	-	-	deafness	see paper; ...	1	3	LOVD
00373403	FamDF99	PubMed: Riahi 2015	4-generation family, 1 affected (F), unaffected heterozygous carrier parents/relatives	F	yes	Tunisia	-	-	-	-	-	deafness	see paper; ...	1	1	LOVD
00373508	RH7	PubMed: Liu 2015	-	-	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00375427	RP#021	PubMed: Katagiri 2014	family	-	-	Japan	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00387170	-	PubMed: Mansard et al, 2021	-	F	-	-	-	-	-	-	-	USH2A	-	1	1	Anne-Françoise Roux
00388737	21	PubMed: Weisschuh 2020	Filing key number: 11, Usher syndrome type I, no patient Ids, consecutive numbers given	M	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	1	1	LOVD
00388924	208	PubMed: Weisschuh 2020	Filing key number: 74, Usher syndrome type I, no patient Ids, consecutive numbers given	F	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	1	1	LOVD
00388925	209	PubMed: Weisschuh 2020	Filing key number: 74, Usher syndrome type I, no patient Ids, consecutive numbers given	M	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	1	1	LOVD
00396241	-	PubMed: Wafa 2021	-	-	-	United States	-	-	-	-	-	retinal disease	atypical vestibular findings, Profound hearing loss, Absent cervical vestibular evoked myogenic potential	1	1	LOVD
00408994	III:2	PubMed: Desposito 2019	-	F	yes	Italy	-	-	-	-	-	USH	profound hearing loss: congenital; 22y: visual impairment (nyctalopia, concentric visual field reduction); no vestibular dysfunction	1	1	LOVD
00426193	10DF10800	PubMed: Al-Kasbi 2022	patient, other affecteds in family	M	yes	Oman	-	-	-	-	-	ID	Global developmental delay with severely impaired intellectual function and absent speech, additionally Usher syndrome phenotype	1	1	Johan den Dunnen
00441455	DEM4675	PubMed: Richard 2019	-	-	yes	Pakistan	-	-	-	-	-	HL	-	1	1	Johan den Dunnen
00441456	DEM4268	PubMed: Richard 2019	-	-	yes	Pakistan	-	-	-	-	-	HL	-	1	1	Johan den Dunnen
00441481	FamF	PubMed: Chen 2021	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	China	-	-	-	-	-	HL	-	1	1	Johan den Dunnen
00441654	HLRB12	PubMed: Bashir 2010, PubMed: Naz 2017	family, 3 affected	-	-	Pakistan	Punjab	-	-	-	-	HL	-	1	3	Johan den Dunnen
00447428	USHII-339	PubMed: Weisschuh 2024	patient, no family history	F	-	Germany	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00448505	-	-	-	M	yes	Pakistan	-	-	-	-	-	DFNB	-	1	1	Hina Khan

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Global Variome shared LOVD

USH1G (Usher syndrome 1G (autosomal recessive))