Disease #04211 (RPar (retinitis pigmentosa, autosomal recessive (RPar)))

Official abbreviation	RPar
Name	retinitis pigmentosa, autosomal recessive (RPar)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	466
Phenotype entries for this disease	467
Associated with 0 genes	-
Associated tissues	-
Disease features	-
Remarks	-
Date created	2015-02-27 18:58:57 +01:00 (CET)
Date last edited	N/A

Individuals

Legend

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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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466 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
00032863	-	-	-	-	-	-	-	-	-	-	-	RPar	-	RP1	RP1	2	1	Christina Zeitz
00032864	-	PubMed: Khaliq 2005	-	-	-	Pakistan	-	-	-	-	-	RPar	-	RP1	RP1	2	1	Christina Zeitz
00032865	-	Khaliq 2005	-	-	-	(Pakistan)	-	-	-	-	-	RPar	-	RP1	RP1	2	2	Christina Zeitz
00032868	-	-	family, 7 affecteds	-	-	Pakistan	-	-	-	-	-	RPar	-	RP1	RP1	2	7	Christina Zeitz
00032869	-	-	-	-	-	-	-	-	-	-	-	RPar	-	RP1	RP1	2	1	Christina Zeitz
00032899	-	-	-	-	-	-	-	-	-	-	-	RPar	-	RP1	RP1	1	1	Christina Zeitz
00032903	-	-	-	-	-	-	-	-	-	-	-	RPar	-	RP1	RP1	2	1	Christina Zeitz
00032905	-	-	-	-	-	-	-	-	-	-	-	RPar	-	RP1	RP1	2	1	Christina Zeitz
00032906	-	-	-	-	-	-	-	-	-	-	-	RPar	-	RP1	RP1	2	1	Christina Zeitz
00032907	-	PubMed: Khaliq 2005	-	-	-	Pakistan	-	-	-	-	-	RPar	-	RP1	RP1	2	1	Christina Zeitz
00033041	-	PubMed: Henderson 2010	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	RPar	-	CRB1	CRB1	1	1	Johan den Dunnen
00033042	-	PubMed: Henderson 2010	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	RPar	retinal telangiectasia	CRB1	CRB1	1	1	Johan den Dunnen
00033067	-	PubMed: Henderson 2010	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	RPar	-	CRB1	CRB1	2	1	Johan den Dunnen
00033069	-	PubMed: Henderson 2010	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	RPar	-	CRB1	CRB1	2	1	Johan den Dunnen
00033070	-	PubMed: Henderson 2010	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	RPar	-	CRB1	CRB1	2	1	Johan den Dunnen
00033071	-	PubMed: Henderson 2010	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	RPar	retinal telangiectasia	CRB1	CRB1	2	1	Johan den Dunnen
00033077	-	PubMed: Henderson 2010	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	RPar	retinal telangiectasia	CRB1	CRB1	2	1	Johan den Dunnen
00033178	-	-	4-generation family, unaffected heterozygous RP carrier with BBS	-	-	Spain	-	-	-	-	-	RPar	-	C2orf71	C2orf71	1	1	Johan den Dunnen
00034374	-	PubMed: Sergouniotis 2011	1 consanguineous case	-	-	Turkey	-	-	-	-	-	RPar	adult onset RP, night blind, field of vision reduced to <10 degrees	KCNJ13	KCNJ13	1	2	Johan den Dunnen
00034375	-	PubMed: Sergouniotis 2011	-	-	-	United Kingdom (Great Britain)	Asia, south	-	-	-	-	RPar	adult onset RP	KCNJ13	KCNJ13	1	1	Johan den Dunnen
00038331	-	PubMed: Booij 2011	-	?	?	-	?	-	-	-	-	RPar	?	CRB1	CRB1	1	1	Frans Cremers
00038332	-	PubMed: Booij 2011	-	?	?	-	?	-	-	-	-	RPar	?	CRB1	CRB1	1	1	Frans Cremers
00038333	-	PubMed: Booij 2011	-	?	?	-	?	-	-	-	-	RPar	?	CRB1	CRB1	1	1	Frans Cremers
00038334	-	PubMed: Booij 2011	-	?	?	-	?	-	-	-	-	RPar	?	CRB1	CRB1	1	1	Frans Cremers
00038335	-	PubMed: Booij 2011	-	?	?	-	?	-	-	-	-	RPar	?	CRB1	CRB1	2	1	Frans Cremers
00059751	-	PubMed: Gu 1999	-	-	-	-	Indian	-	-	-	-	RPar	-	FAM161A	FAM161A	1	1	Jacopo Celli
00059752	-	-	-	F	-	-	German	-	-	-	-	RPar	-	FAM161A	FAM161A	1	1	Jacopo Celli
00059753	-	-	-	-	-	-	German	-	-	-	-	RPar	-	FAM161A	FAM161A	1	1	Jacopo Celli
00059754	-	-	-	-	-	-	German	-	-	-	-	RPar	-	FAM161A	FAM161A	1	1	Jacopo Celli
00059756	MOL0276	PubMed: Sharon 2015, PubMed: Bandah-Rozenfeld 2010	1 familie, 3 patients, index case, also his affected brother carries the same mutations	M	yes	(Israel)	Syria;Jewish	-	-	-	-	RPar	-	FAM161A	FAM161A	1	3	Jacopo Celli
00059757	MOL0786	PubMed: Bandah-Rozenfeld 2010	-	M	-	(Israel)	Morocco;Jewish	-	-	-	-	RPar	-	FAM161A	FAM161A	1	1	Jacopo Celli
00059760	MOL0139	PubMed: Bandah-Rozenfeld 2010	1 familie, 2 patients, index case, also her affected sister carries the same mutations	F	yes	(Israel)	Morocco;Jewish	-	-	-	-	RPar	-	FAM161A	FAM161A	1	2	Jacopo Celli
00059761	MOL0284	PubMed: Bandah-Rozenfeld 2010	-	F	-	(Israel)	Jewish-Ashkenazi	-	-	-	-	RPar	-	FAM161A	FAM161A	1	1	Jacopo Celli
00059762	MOL0286	PubMed: Bandah-Rozenfeld 2010	-	F	-	(Israel)	Morocco;Jewish	-	-	-	-	RPar	-	FAM161A	FAM161A	1	1	Jacopo Celli
00059763	MOL0352	PubMed: Bandah-Rozenfeld 2010	-	M	-	(Israel)	Libya;Jewish	-	-	-	-	RPar	-	FAM161A	FAM161A	1	1	Jacopo Celli
00059764	MOL0526 PatII2	PubMed: Bandah-Rozenfeld 2010	affected sister	F	-	(Israel)	Morocco;Jewish	-	-	-	-	RPar	-	FAM161A	FAM161A	1	1	Jacopo Celli
00059765	MOL0526PatII1	PubMed: Bandah-Rozenfeld 2010	1 familie, 2 patients, also his affected sister carries the same mutations	M	-	(Israel)	Morocco;Jewish	-	-	-	-	RPar	-	FAM161A	FAM161A	1	2	Jacopo Celli
00059766	MOL0570	PubMed: Bandah-Rozenfeld 2010	-	F	-	(Israel)	Morocco;Jewish	-	-	-	-	RPar	-	FAM161A	FAM161A	1	1	Jacopo Celli
00059767	MOL0672	PubMed: Bandah-Rozenfeld 2010	-	F	-	(Israel)	Morocco;Jewish	-	-	-	-	RPar	-	FAM161A	FAM161A	1	1	Jacopo Celli
00059768	MOL0696	PubMed: Bandah-Rozenfeld 2010	family, 2 patients, index case, also his affected sister	M	-	(Israel)	Morocco;Jewish	-	-	-	-	RPar	-	FAM161A	FAM161A	1	2	Jacopo Celli
00059769	MOL0740PatII1	PubMed: Bandah-Rozenfeld 2010	family, 2 patients, index case, also his affected sister	M	-	(Israel)	Morocco;Jewish	-	-	-	-	RPar	-	FAM161A	FAM161A	1	2	Jacopo Celli
00059770	MOL0740PatII2	PubMed: Bandah-Rozenfeld 2010	affected sister	F	-	(Israel)	Morocco;Jewish	-	-	-	-	RPar	-	FAM161A	FAM161A	1	1	Jacopo Celli
00059771	MOL0766FamV2	PubMed: Bandah-Rozenfeld 2010	-	M	yes	(Israel)	Morocco;Jewish	-	-	-	-	RPar	-	FAM161A	FAM161A	1	1	Jacopo Celli
00059772	MOL0766PatV1	PubMed: Bandah-Rozenfeld 2010	-	F	yes	(Israel)	Morocco;Jewish	-	-	-	-	RPar	-	FAM161A	FAM161A	1	1	Jacopo Celli
00059773	MOL0766PatIV3	PubMed: Bandah-Rozenfeld 2010	family, 4 patients, cousin of V:1 & 2	F	yes	(Israel)	Morocco;Jewish	-	-	-	-	RPar	-	FAM161A	FAM161A	1	4	Jacopo Celli
00059775	TB21PatVI3	PubMed: Bandah-Rozenfeld 2010	family, 4 affected	M	-	Israel	Morocco;Jewish	-	-	-	-	RPar	-	FAM161A	FAM161A	1	4	Jacopo Celli
00059776	TB21PatV2	PubMed: Bandah-Rozenfeld 2010	PatV2	M	yes	Israel	Morocco;Jewish	-	-	-	-	RPar	-	FAM161A	FAM161A	1	1	Jacopo Celli
00059777	TB21PatV2	PubMed: Bandah-Rozenfeld 2010	PatV2	F	yes	Israel	Morocco;Jewish	-	-	-	-	RPar	-	FAM161A	FAM161A	1	1	Jacopo Celli
00059778	MOL0777	PubMed: Bandah-Rozenfeld 2010	family, 2 affected	M	yes	(Israel)	Arab Muslim	-	-	-	-	RPar	-	FAM161A	FAM161A	1	2	Jacopo Celli
00059883	-	-	-	-	-	-	-	-	-	-	-	RPar	-	LCA5	LCA5	1	1	Frans Cremers
00059884	-	-	-	-	-	-	-	-	-	-	-	RPar	-	LCA5	LCA5	1	1	Frans Cremers
00059885	-	-	-	-	-	-	-	-	-	-	-	RPar	-	LCA5	LCA5	1	1	Frans Cremers
00059929	-	-	-	-	-	-	Turkish	-	-	-	-	RPar	-	FAM161A	FAM161A	1	1	Jacopo Celli
00059930	-	-	-	-	-	-	German	-	-	-	-	RPar	-	FAM161A	FAM161A	1	1	Jacopo Celli
00059931	-	-	-	-	-	-	German	-	-	-	-	RPar	-	FAM161A	FAM161A	1	1	Jacopo Celli
00059932	-	-	-	-	-	-	German	-	-	-	-	RPar	-	FAM161A	FAM161A	1	1	Jacopo Celli
00059933	-	-	-	-	-	-	German	-	-	-	-	RPar	-	FAM161A	FAM161A	1	1	Jacopo Celli
00059934	-	-	-	-	-	-	German	-	-	-	-	RPar	-	FAM161A	FAM161A	1	1	Jacopo Celli
00059935	-	-	-	-	-	-	German	-	-	-	-	RPar	-	FAM161A	FAM161A	1	1	Jacopo Celli
00059936	-	-	-	-	-	-	German	-	-	-	-	RPar	-	FAM161A	FAM161A	1	1	Jacopo Celli
00059937	-	-	-	-	-	-	German	-	-	-	-	RPar	-	FAM161A	FAM161A	1	1	Jacopo Celli
00059938	-	-	-	-	-	-	?	-	-	-	-	RPar	-	FAM161A	FAM161A	1	1	Jacopo Celli
00059939	-	-	-	-	-	-	?	-	-	-	-	RPar	-	FAM161A	FAM161A	1	1	Jacopo Celli
00059940	-	-	-	-	-	-	?	-	-	-	-	RPar	-	FAM161A	FAM161A	1	1	Jacopo Celli
00059941	-	-	-	-	-	-	?	-	-	-	-	RPar	-	FAM161A	FAM161A	1	1	Jacopo Celli
00059942	-	-	-	-	-	-	?	-	-	-	-	RPar	-	FAM161A	FAM161A	1	1	Jacopo Celli
00059943	-	-	-	-	-	-	?	-	-	-	-	RPar	-	FAM161A	FAM161A	1	1	Jacopo Celli
00059946	MOL0195	PubMed: Bandah-Rozenfeld 2010, PubMed: Kimchi 2018	family, 3 affected	M	-	(Israel)	Jewish-Ashkenazi;Tunisia;Jewish	-	-	-	-	RPar	-	FAM161A	FAM161A	2	3	Jacopo Celli
00059947	MOL0303	PubMed: Bandah-Rozenfeld 2010	-	M	-	(Israel)	Bulgaria;Jewish	-	-	-	-	RPar	-	FAM161A	FAM161A	2	1	Jacopo Celli
00059948	MOL0446	PubMed: Bandah-Rozenfeld 2010	1 familie, 3 patients	F	-	(Israel)	Libya;Morocco;Jewish	-	-	-	-	RPar	-	FAM161A	FAM161A	2	1	Jacopo Celli
00081894	-	Author, Submitted	-	F	no	Spain	-	-	-	-	-	RPar	HP:0001133; HP:0007737; HP:0000543	SYNE2	SYNE2	2	1	Cristina Méndez
00087127	-	Author, Submitted	-	F	no	Spain	-	-	-	-	-	RPar	HP:0001133; HP:0007737; HP:0000543	SYNE2	SYNE2	2	1	Cristina Méndez
00087824	-	PubMed: Hagstrom 1998	2 generation family 1 affected, 5 carrier	F	no	United States	-	-	-	-	-	RPar	-	TULP1	TULP1	2	1	Raheel Qamar
00087825	-	PubMed: Banerjee 1998	-	M	no	United States	-	-	-	-	-	RPar	-	TULP1	TULP1	2	1	Raheel Qamar
00087828	-	PubMed: Gu 1998	-	?	-	Germany	-	-	-	-	-	RPar	-	TULP1	TULP1	1	1	Raheel Qamar
00087830	-	PubMed: Paloma 2000	-	F	?	Spain	Spainish	-	-	-	-	RPar	-	TULP1	TULP1	2	1	Raheel Qamar
00087876	-	PubMed: Hebrard 2011	3 generation family, 2 affected, 8 carriers, 1 normal	M	no	France	-	-	-	-	-	RPar	Bilateral macular atrophy,pigment deposits in retinal periphery,attenuated retinal vessels and pale optic disks	TULP1	TULP1	2	1	Raheel Qamar
00087877	-	PubMed: Hebrard 2011	3 generation family, 2 affected, 8 carriers, 1 normal	F	no	France	-	-	-	-	-	RPar	Disorganized aspect, many bone spicule-shaped yellowish pigment deposits in mid periphery , visible retinal vessels and waxy optic disks	TULP1	TULP1	2	1	Raheel Qamar
00087879	-	PubMed: Kannabiran 2012	4 generation family 2 affected, 3 carrier	M	yes	India	South india	-	-	-	-	RPar	Rpe degeneration, arterial narrowing, pigmentary deposits and disc pallor, cellophane reflexes	TULP1	TULP1	1	1	Raheel Qamar
00087880	-	PubMed: Kannabiran 2012	4 generation family 3 affected, 2 carrier	M	yes	India	South india	-	-	-	-	RPar	Rpe degeneration, arterial narrowing, pigmentary deposits and disc pallor, cellophane reflexes	TULP1	TULP1	1	1	Raheel Qamar
00087882	-	PubMed: Iqbal 2011	4 generation family, 4 affected, 4 carriers	F	yes	Pakistan	Southern Punjab	-	-	-	-	RPar	Attenuated retinal vessels, pigment deposit	TULP1	TULP1	1	1	Raheel Qamar
00087883	-	PubMed: Iqbal 2011	4 generation family, 4 affected, 4 carriers	F	yes	Pakistan	Southern Punjab	-	-	-	-	RPar	Attenuated retinal vessels, pigment deposit	TULP1	TULP1	1	1	Raheel Qamar
00087884	-	PubMed: Iqbal 2011	4 generation family, 4 affected, 4 carriers	F	yes	Pakistan	Southern Punjab	-	-	-	-	RPar	Attenuated retinal vessels, pigment deposit	TULP1	TULP1	1	1	Raheel Qamar
00087885	-	PubMed: Iqbal 2011	4 generation family, 4 affected, 4 carriers	F	yes	Pakistan	Southern Punjab	-	-	-	-	RPar	Attenuated retinal vessels, pigment deposit	TULP1	TULP1	1	1	Raheel Qamar
00087887	-	PubMed: Ajmal 2012	6 generation family, 16 carriers, 27 affected	M	-	Pakistan	NothernPunjab,Nothern Pakistan	-	-	-	-	RPar	Attenuated retinal vessels, pigment deposit,waxy pale appearnace of optic disc,yellow perifoveal annnular ring	TULP1	TULP1	1	1	Raheel Qamar
00087888	-	PubMed: Iqbal 2011	4 generation family, 4 affected, 3 carriers	F	yes	Pakistan	Southern Punjab	-	-	-	-	RPar	Attenuated retinal vessels, pigment deposit,waxy pale appearnace of optic disc,yellow perifoveal annnular ring,bone spicules absent	TULP1	TULP1	1	1	Raheel Qamar
00087889	-	PubMed: Iqbal 2011	4 generation family, 4 affected, 3 carriers	F	yes	Pakistan	Southern Punjab	-	-	-	-	RPar	Attenuated retinal vessels, pigment deposit,waxy pale appearnace of optic disc,yellow perifoveal annnular ring,bone spicules absent	TULP1	TULP1	1	1	Raheel Qamar
00087890	-	PubMed: Iqbal 2011	4 generation family, 4 affected, 3 carriers	F	yes	Pakistan	Southern Punjab	-	-	-	-	RPar	Attenuated retinal vessels, pigment deposit,waxy pale appearnace of optic disc,yellow perifoveal annnular ring,bone spicules absent	TULP1	TULP1	1	1	Raheel Qamar
00087891	-	PubMed: Iqbal 2011	4 generation family, 4 affected, 3 carriers	F	yes	Pakistan	Southern Punjab	-	-	-	-	RPar	Attenuated retinal vessels, pigment deposit,waxy pale appearnace of optic disc,yellow perifoveal annnular ring,bone spicules absent	TULP1	TULP1	1	1	Raheel Qamar
00087892	-	PubMed: Kondo 2004	2 generation family 2 affected, 3 carrier	F	no	Japan	-	-	-	-	-	RPar	Attenuated retinal vessels, minimal pigmented retinopathy with temporal disc pallor and annuli of yellow deposits on the macula, bulles eye appearance of macula, myopia	TULP1	TULP1	1	1	Raheel Qamar
00087893	-	PubMed: Kondo 2004	2 generation family 2 affected, 3 carrier	M	no	Japan	-	-	-	-	-	RPar	Attenuated retinal vessels, minimal pigmented retinopathy with temporal disc pallor and annuli of yellow deposits on the macula, bulles eye appearance of macula, myopia	TULP1	TULP1	1	1	Raheel Qamar
00087896	-	PubMed: Singh 2009	2 Families	M	yes	India	-	-	-	-	-	RPar	Macular degeneration,pigment migration, bonecorpuscular pigmentation, vitreous opacities and vitreous pigments,diffuse disc pallor	TULP1	TULP1	1	2	Raheel Qamar
00087899	-	PubMed: Hagstrom 1998	2 generation family 2 affected	M	no	-	-	-	-	-	-	RPar	-	TULP1	TULP1	2	1	Raheel Qamar
00087900	-	PubMed: Hagstrom 1998	2 generation family 2 affected	M	no	-	-	-	-	-	-	RPar	-	TULP1	TULP1	2	1	Raheel Qamar
00087905	-	PubMed: den Hollander 2007	2 generation family, 5 affected indiviuals	F	no	Suriname	-	-	-	-	-	RPar	Nustagmus,low visual acuity,nyclatopia, retinal dystrophy	TULP1	TULP1	2	1	Raheel Qamar
00087906	-	PubMed: den Hollander 2007	2 generation family, 5 affected indiviuals	F	no	Suriname	-	-	-	-	-	RPar	Nustagmus,low visual acuity,nyclatopia, retinal dystrophy	TULP1	TULP1	2	1	Raheel Qamar
00087907	-	PubMed: den Hollander 2007	2 generation family, 5 affected indiviuals	F	no	Suriname	-	-	-	-	-	RPar	Nustagmus,low visual acuity,nyclatopia, retinal dystrophy	TULP1	TULP1	2	1	Raheel Qamar
00087908	-	PubMed: den Hollander 2007	2 generation family, 5 affected indiviuals	F	no	Suriname	-	-	-	-	-	RPar	Nustagmus,low visual acuity,nyclatopia, retinal dystrophy	TULP1	TULP1	2	1	Raheel Qamar
00087909	-	PubMed: den Hollander 2007	2 generation family, 5 affected indiviuals	M	no	Suriname	-	-	-	-	-	RPar	Nustagmus,low visual acuity,nyclatopia, retinal dystrophy	TULP1	TULP1	2	1	Raheel Qamar
00087910	-	PubMed: Ajmal 2012	6 generation family, 5 carriers, 6 affected	M	yes	Pakistan	Nothern Punjab	-	-	-	-	RPar	Incomplete ring formation, bone spicules absent	TULP1	TULP1	1	1	Raheel Qamar

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Global Variome shared LOVD

UBA1 (ubiquitin-like modifier activating enzyme 1)