All individuals with variants in gene IFT140

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.

172 entries on 2 pages. Showing entries 1 - 100.

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

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00107873	MSS2	PubMed: Schmidts 2013	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	Germany	-	-	-	-	-	SRTD9;MZSDS	-	3	1	Hannah Mitchison
00107874	JATD3	PubMed: Schmidts 2013	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	Germany	-	-	-	-	-	SRTD	-	1	1	Hannah Mitchison
00107875	JATD1	PubMed: Schmidts 2013	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	Serbia	-	-	-	-	-	SRTD	-	2	1	Hannah Mitchison
00107876	JATD2	PubMed: Schmidts 2013	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	Serbia	-	-	-	-	-	SRTD	-	2	1	Hannah Mitchison
00107877	JATD5	PubMed: Schmidts 2013	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	Lithuania	-	-	-	-	-	SRTD	-	1	1	Hannah Mitchison
00107878	MSS1	PubMed: Schmidts 2013	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	Germany	-	-	-	-	-	SRTD9;MZSDS	-	2	1	Hannah Mitchison
00164426	-	-	-	M	-	(Germany)	-	-	-	-	-	?	Global developmental delay (HP:0001263); Renal dysplasia (HP:0000110); Laryngomalacia (HP:0001601); Patent foramen ovale (HP:0001655)	1	1	IMGAG
00233301	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233302	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233303	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233304	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233305	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	18	Yoshito Koyanagi
00233306	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233307	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	24	Yoshito Koyanagi
00233308	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	2	Yoshito Koyanagi
00233309	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233310	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233311	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233312	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	4	Yoshito Koyanagi
00233313	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233314	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	297	Yoshito Koyanagi
00233315	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	81	Yoshito Koyanagi
00233316	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233317	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	2	Yoshito Koyanagi
00233318	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233319	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233320	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233321	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233322	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233323	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	9	Yoshito Koyanagi
00233324	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233325	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	2	Yoshito Koyanagi
00233326	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233327	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	12	Yoshito Koyanagi
00233328	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	5	Yoshito Koyanagi
00233329	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233330	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	4	Yoshito Koyanagi
00233331	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233332	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	2	Yoshito Koyanagi
00233333	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	2	Yoshito Koyanagi
00233334	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233335	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233336	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	262	Yoshito Koyanagi
00233337	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233338	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233339	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	2	Yoshito Koyanagi
00233340	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	3	Yoshito Koyanagi
00233341	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233342	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	110	Yoshito Koyanagi
00233343	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233344	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	3	Yoshito Koyanagi
00233345	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1203 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	48	Yoshito Koyanagi
00233346	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233347	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233348	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233349	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233350	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	2	Yoshito Koyanagi
00233351	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233352	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233353	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1202 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233784	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	24	Yoshito Koyanagi
00233785	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	11	Yoshito Koyanagi
00233786	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	6	Yoshito Koyanagi
00233787	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1203 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	2	Yoshito Koyanagi
00240443	-	-	-	F	-	Mexico	-	-	-	-	-	RD	-	1	1	Juan Carlos Zenteno
00240444	-	-	-	M	-	Mexico	-	-	-	-	-	RD	-	1	1	Juan Carlos Zenteno
00291375	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	7	Mohammed Faruq
00291376	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	247	Mohammed Faruq
00291384	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	186	Mohammed Faruq
00291395	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	29	Mohammed Faruq
00299670	SRF71	PubMed: Xu 2015	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	China	Han Chinese	-	-	-	-	retinal disease	36y-vision loss; best corrected visual acuity 0.05/0.05; widespread bone-spicule pigmentation, gold foil macular reflex, attenuation retinal vessels, optical coherence topography thin retina with loss inner segment/outer segment; no renal abnormalities	2	1	Johan den Dunnen
00299671	SRF964	PubMed: Xu 2015	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	China	Han Chinese	-	-	-	-	retinal disease	23y-vision loss; best corrected visual acuity 0.3/0.4, bone-spicule, obvious salt and pepper changes, attenuated retinal vessels, optical coherence topography disrupted inner segment/outer segment; no renal abnormalities	2	1	Johan den Dunnen
00299672	SRF1186	PubMed: Xu 2015	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	China	Han Chinese	-	-	-	-	retinal disease	25y-vision loss; best corrected visual acuity 0.6/0.4, electroretinogram severely reduced, retinal pigment epithelium atrophy with gray pigments in mid-peripheral retina, patchy hypofluorescence changes peripheral retina, eye hyperfluorescence ring around fovea, optical coherence topography preserved inner segment/outer segment central fovea and epi-retinal membrane right eye; no renal abnormalities	2	1	Johan den Dunnen
00299673	EG3	PubMed: Xu 2015	2-generation family, 1 affected, unaffected parents	M	-	United States	white	-	-	-	-	retinal disease	21y-vision loss; best corrected visual acuity 0.35/light perception, intraretinal pigment spicules, vascular attenuation; no renal abnormalities	2	1	Johan den Dunnen
00299674	EG41	PubMed: Xu 2015	2-generation family, 1 affected, unaffected parents	F	-	United States	white	-	-	-	-	retinal disease	33y-vision loss; electroretinogram severely reduced, intraretinal pigment spicules, vascular attenuation; no renal abnormalities	2	1	Johan den Dunnen
00299675	SRF117	PubMed: Xu 2015	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	China	Han Chinese	-	-	-	-	retinal disease	best corrected visual acuity 0.6/0.6, electroretinogram severely reduced, retinal pigment epithelium atrophy, hyperfluorecence ring macular area, optical coherence topography disruption of inner segment/outer segment, increased foveal retina thickness; no renal abnormalities	2	1	Johan den Dunnen
00299676	SRF92	PubMed: Xu 2015	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	China	Han Chinese	-	-	-	-	retinal disease	best corrected visual acuity 0.06/0.06, widespread pigment crumbs at posterior pole and mid-peripheral area, optical coherence topography loss of inner segment/outer segment, retina atrophy; no renal abnormalities	2	1	Johan den Dunnen
00299678	Fam1PatGC17830-1.1	PubMed: Hull 2016	3-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents/relatives	M	-	Pakistan	-	-	-	-	-	retinal disease	13y-logMAR Visual Acuity (Snellen) R 0.0 (6/6) L 0.0 (6/6), refractive error R +0.25/-1.25x40 L -5.50/-0.50x140; midperipheral hypopigmented dots, mild RPE atrophy; Humphrey visual fields, 24-2, extensive loss of peripheral field, preserved central 10 degrees, Ishihara R and L 17/17; 13y-residual pattern electroretinogram activity, severe loss of both rod and cone systems; normal serum creatinine level, normal estimated glomerular filtration rate	1	4	Johan den Dunnen
00299679	Fam1Pat1.2	PubMed: Hull 2016	-	M	-	Pakistan	-	-	-	-	-	retinal disease	see paper; ..., 45y-logMAR Visual Acuity (Snellen) R 0.7 (6/30) L 0.5 (6/19); midperipheral RPE hypopigmentary change with intraretinal pigmentary migration, macular atrophy; early cataract R eye, 44y-L cataract surgery; normal serum creatinine level, normal estimated glomerular filtration rate	1	1	Johan den Dunnen
00299680	Fam1Pat1.3	PubMed: Hull 2016	-	M	-	Pakistan	-	-	-	-	-	retinal disease	see paper; ..., 44y-logMAR Visual Acuity (Snellen) R 0.3 (6/12) L 0.3 (6/12); midperipheral RPE hypopigmentation, early macular atrophy; early lens opacity; normal serum creatinine level, normal estimated glomerular filtration rate	1	1	Johan den Dunnen
00299681	Fam2PatGC1558	PubMed: Hull 2016	3-generation family, affected sister/brother	F	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	see paper; ..., 67y-logMAR Visual Acuity (Snellen) R HM L PL; posterior pole chorioretinal atrophy, extensive midperipheral pigmentation, severely attenuated vessels; confrontation visual fields <58 both eyes, cataract surgery both eyes late 40s, myopic prior; serum creatinine level 76 umol/L, estimated glomerular filtration rate 95	2	2	Johan den Dunnen
00299682	Fam3PatGC4303-3.1	PubMed: Hull 2016	2-generation family, 3 affected sibs	M	-	India	Gujarat	-	-	-	-	retinal disease	see paper; ..., 53y-logMAR Visual Acuity (Snellen) R 0.7 (6/30) L 1.8 (1/60); R cystoid macular edema with epiretinal membrane, B macular atrophy, attenuated vessels extensive pigmentary change; confrontation visual fields 20degrees on R, 10degrees on L, early cataract; 45y-undetectable pattern electroretinogram and rod-specific electroretinogram, markedly subnormal cone; serum creatinine level 115 umol/L, estimated glomerular filtration rate 61	1	3	Johan den Dunnen
00299683	Fam3Pat3.2	PubMed: Hull 2016	sister	F	-	India	Gujarat	-	-	-	-	retinal disease	see paper; ..., 57y-logMAR Visual Acuity (Snellen) R 0.2 (6/9.5) L 0.2 (6/9.5); marked vessel attenuation with nasally occluded vessels, extensive atrophy particularly of posterior pole, midperipheral pigmentary change; early cataract both eyes, Ishihara R 2/17 L 4/17; serum creatinine level 91 umol/L, estimated glomerular filtration rate 56	1	1	Johan den Dunnen
00299684	Fam4PatGC20552	PubMed: Hull 2016	2-generation family, 3 affected brothers (3M)	M	-	Pakistan	Punjab	-	-	-	-	retinal disease	26y-logMAR Visual Acuity (Snellen) R 0.3 (6/12) L 0.2 (6/9), refractive error R -2.50/-0.75x15 L -1.75/-1.25x10; bilateral mild epiretinal membrane, mild RPE change mid-periphery; early subcapsular cataract, Ishihara R 7/17 L 17/17; 25y-subnormal pattern electroretinogram, undetectable rod specific responses, subnormal cone	1	3	Johan den Dunnen
00299685	Fam5PatGC21161	PubMed: Hull 2016	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	31y-logMAR Visual Acuity (Snellen) R 0.0 (6/6) L 0.1 (6/4.8); attenuated vessels, midperipheral RPE mottling; confrontation visual fields, full Ishihara R 17/17 L 17/17; serum creatinine level 77 umol/L, estimated glomerular filtration rate 109	2	1	Johan den Dunnen
00304495	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	6	Mohammed Faruq
00304498	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	8	Mohammed Faruq
00307824	Fam4	PubMed: Al-Bdour 2020	5-generation family, 11 affected (7F, 4M), unaffected heterozygous carrier parents/relatives	F;M	yes	Jordan	-	-	-	-	-	retinal disease	see paper; ...	1	11	Johan den Dunnen
00309194	-	PubMed: Sharon 2019	2 IRD families	-	-	Israel	-	-	-	-	-	retinal disease	-	1	2	Global Variome, with Curator vacancy
00325427	1830	PubMed: Zenteno 2020	family	-	-	Mexico	-	-	-	-	-	retinal disease	retinitis pigmentosa	2	1	Johan den Dunnen
00325432	2007	PubMed: Zenteno 2020	family	-	-	Mexico	-	-	-	-	-	retinal disease	syndromic retinal dystrophy	1	1	Johan den Dunnen
00325451	3068	PubMed: Zenteno 2020	-	-	-	Mexico	-	-	-	-	-	retinal disease	macular dystrophy	1	1	Johan den Dunnen
00325482	3537	PubMed: Zenteno 2020	-	-	-	Mexico	-	-	-	-	-	retinal disease	-	2	1	Johan den Dunnen
00325516	EC18	PubMed: Zenteno 2020	single patient	-	-	Mexico	-	-	-	-	-	retinal disease	retinitis pigmentosa	2	1	Johan den Dunnen
00328298	W000174	PubMed: Carss 2017	-	M	-	United Kingdom (Great Britain)	Asia-South	-	-	-	-	retinal disease	-	1	1	LOVD
00331490	16DG0308	PubMed: Maddirevula 2018	isolated case	M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Global developmental delay, Abnormality of eye movement, Short stature, Deeply set eyeNo	2	1	LOVD
00331491	14DG1540 , 14DG1541	PubMed: Maddirevula 2018	family, 2 affected (2M)	M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Global developmental delay, Agenesis of the corpus callosum, Deeply set eye, Abnormal inYes	1	2	LOVD
00333836	32	PubMed: Stone 2017	1 affected	M	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA1a	2	1	LOVD
00333905	272	PubMed: Stone 2017	family, 2 affected	M	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA1aiii	2	2	LOVD
00334097	630	PubMed: Stone 2017	1 affected	F	-	(United States)	-	-	-	-	-	retinal disease	clinical category IB4	2	1	LOVD

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Global Variome shared LOVD

IFT140 (intraflagellar transport 140 homolog (Chla...))