Disease #00112 (RP;RCD (retinitis pigmentosa (RP, rod-cone dystrophy (RCD))), OMIM:268000)

Official abbreviation	RP;RCD
Name	retinitis pigmentosa (RP, rod-cone dystrophy (RCD))
OMIM ID	268000
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	-
Individuals reported having this disease	63
Phenotype entries for this disease	19
Associated with 1 gene	NR2E3
Associated tissues	-
Disease features	-
Remarks	-

Individuals

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ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

? = unknown
- = not applicable
no = non-consanguineous parents
yes = consanguineous parents

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. African, white, gypsy, jew (Ashkenazi), Sardinian, 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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\|	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
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>=	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
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\|	Numeric	23\|24	all entries exactly matching 23 or 24
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Example	Matches
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"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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63 entries on 1 page. Showing entries 1 - 63.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00001781	-	-	-	-	-	(United States)	-	-	-	-	RP;RCD	-	-	RHO	1	1	Feng Wang
00001782	-	-	-	-	-	(United States)	-	-	-	-	RP;RCD	-	-	RPGR	1	1	Feng Wang
00001783	-	-	-	-	-	(United States)	-	-	-	-	RP;RCD	-	-	PRPH2, ROM1	2	1	Feng Wang
00001784	-	-	-	-	-	(United States)	-	-	-	-	RP;RCD	-	-	PRPF31	1	1	Feng Wang
00001785	-	-	-	-	-	(United States)	-	-	-	-	RP;RCD	-	-	USH2A	1	1	Feng Wang
00001786	-	-	-	-	-	(United States)	-	-	-	-	RP;RCD	-	-	RPE65	1	1	Feng Wang
00001787	-	-	-	-	-	(United States)	-	-	-	-	RP;RCD	-	-	BBS1	1	1	Feng Wang
00001788	-	-	-	-	-	(United States)	-	-	-	-	RP;RCD	-	-	BBS1	1	1	Feng Wang
00001789	-	-	-	-	-	(United States)	-	-	-	-	RP;RCD	-	-	RDH12	2	1	Feng Wang
00001790	-	-	-	-	-	(United States)	-	-	-	-	RP;RCD	-	-	RDH12	2	1	Feng Wang
00001791	-	-	-	-	-	(United States)	-	-	-	-	RP;RCD	-	-	ABCA4	4	1	Feng Wang
00001792	-	-	-	-	-	(United States)	-	-	-	-	RP;RCD	-	-	SNRNP200	1	1	Feng Wang
00001793	-	-	-	-	-	(United States)	-	-	-	-	RP;RCD	-	-	PDE6A	2	1	Feng Wang
00001794	-	-	-	-	-	(United States)	-	-	-	-	RP;RCD	-	-	USH2A	2	1	Feng Wang
00001795	-	PubMed: Wang 2014a	-	-	-	(United States)	-	-	-	-	RP;RCD	-	-	MERTK	1	1	Feng Wang
00001796	-	PubMed: Wang 2014a	-	-	-	(United States)	-	-	-	-	RP;RCD	-	-	MERTK	1	1	Feng Wang
00001797	-	-	-	-	-	(United States)	-	-	-	-	RP;RCD	-	-	RPGR	1	1	Feng Wang
00001798	-	-	-	-	-	(United States)	-	-	-	-	RP;RCD	-	-	-	0	1	Feng Wang
00001799	-	-	-	-	-	(United States)	-	-	-	-	RP;RCD	-	-	PRPF31	1	1	Feng Wang
00001800	-	-	-	-	-	(United States)	-	-	-	-	RP;RCD	-	-	RPGR	1	1	Feng Wang
00001801	-	-	-	-	-	(United States)	-	-	-	-	RP;RCD	-	-	CRX	1	1	Feng Wang
00001802	-	-	-	-	-	(United States)	-	-	-	-	RP;RCD	-	-	RGR	1	1	Feng Wang
00001803	-	-	-	-	-	(United States)	-	-	-	-	RP;RCD	-	-	PRPF31	1	1	Feng Wang
00001804	-	-	-	-	-	(United States)	-	-	-	-	RP;RCD	-	-	PROM1	2	1	Feng Wang
00001805	-	-	-	-	-	(United States)	-	-	-	-	RP;RCD	-	-	CNGA1	2	1	Feng Wang
00001806	-	-	-	-	-	(United States)	-	-	-	-	RP;RCD	-	-	PRPF8	1	1	Feng Wang
00001807	-	-	-	-	-	(United States)	-	-	-	-	RP;RCD	-	-	PROM1	2	1	Feng Wang
00001808	-	-	-	-	-	(United States)	-	-	-	-	RP;RCD	-	-	PDE6B	2	1	Feng Wang
00001809	-	-	-	-	-	(United States)	-	-	-	-	RP;RCD	-	-	ABCA4	2	1	Feng Wang
00001810	-	-	-	-	-	(United States)	-	-	-	-	RP;RCD	-	-	PRCD	1	1	Feng Wang
00001811	-	-	-	-	-	(United States)	-	-	-	-	RP;RCD	-	-	USH2A	2	1	Feng Wang
00001812	-	-	-	-	-	(United States)	-	-	-	-	RP;RCD	-	-	TULP1	2	1	Feng Wang
00001813	-	-	-	-	-	(United States)	-	-	-	-	RP;RCD	-	-	RDH12	2	1	Feng Wang
00001814	-	-	-	-	-	(United States)	-	-	-	-	RP;RCD	-	-	NPHP1	1	1	Feng Wang
00001815	-	-	-	-	-	(United States)	-	-	-	-	RP;RCD	-	-	RDH5	1	1	Feng Wang
00001816	-	-	-	-	-	(United States)	-	-	-	-	RP;RCD	-	-	CYP4V2	2	1	Feng Wang
00001817	-	-	-	-	-	(United States)	-	-	-	-	RP;RCD	-	-	CYP4V2	2	1	Feng Wang
00001818	-	-	-	-	-	(United States)	-	-	-	-	RP;RCD	-	-	CYP4V2	2	1	Feng Wang
00001819	-	-	-	-	-	(United States)	-	-	-	-	RP;RCD	-	-	BBS2	1	1	Feng Wang
00001820	-	-	-	-	-	(United States)	-	-	-	-	RP;RCD	-	-	JAG1	1	1	Feng Wang
00001821	-	-	-	-	-	(United States)	-	-	-	-	RP;RCD	-	-	NPHP4	2	1	Feng Wang
00001822	-	-	-	-	-	(United States)	-	-	-	-	RP;RCD	-	-	CYP4V2	2	1	Feng Wang
00001823	-	-	-	-	-	(United States)	-	-	-	-	RP;RCD	-	-	BBS5	1	1	Feng Wang
00001824	-	-	-	-	-	(United States)	-	-	-	-	RP;RCD	-	-	CDHR1	1	1	Feng Wang
00001825	-	-	-	-	-	(United States)	-	-	-	-	RP;RCD	-	-	GPR98	2	1	Feng Wang
00001826	-	-	-	-	-	(United States)	-	-	-	-	RP;RCD	-	-	USH1C	2	1	Feng Wang
00001827	-	-	-	-	-	(United States)	-	-	-	-	RP;RCD	-	-	CLN3	2	1	Feng Wang
00003028	-	-	-	-	-	-	-	-	-	-	RP;RCD	-	USH2A	USH2A	2	1	Marcel Nelen
00003093	-	-	-	M	yes	United Kingdom (Great Britain)	Caucasian	-	-	-	obesity, RP;RCD	-	TUB	-	0	1	Laura Pearce
00016423	-	-	-	F	yes	Libya	-	-	-	-	RP;RCD	ataxia, retinal dystrophy, neuropathy	PDE6A, SH3TC2	PDE6A, SH3TC2	2	1	Jill Urquhart
00016542	-	PubMed: Coussa 2013	-	F	?	Canada	Quebec	-	-	-	RP;RCD	characteristic arRP findings with hypopigmented macular atrophy and 'bear track' changes	WDR19	WDR19	2	1	Heleen Arts
00016548	-	PubMed: Coussa 2013	family with 6 affecteds.	M	yes	Canada	Quebec	-	-	-	RP;RCD	characteristic arRP with hypopigmented macular atrophy and bear track changes; bilateral congenital subclinical renal cysts; mild cognitive impairment	WDR19	WDR19	1	6	Heleen Arts
00059787	-	-	-	-	-	-	-	-	-	-	RP;RCD	-	CERKL	CERKL	1	1	Leen Abu Safieh
00059788	-	-	-	-	yes	-	-	-	-	-	RP;RCD	-	RBP3	RBP3	1	1	Leen Abu Safieh
00059789	-	-	-	-	-	-	-	-	-	-	RP;RCD	-	LCA5	LCA5	1	1	Leen Abu Safieh
00059791	-	-	-	-	-	-	-	-	-	-	RP;RCD	-	EMC1	EMC1	1	1	Leen Abu Safieh
00059792	-	-	-	-	-	-	-	-	-	-	RP;RCD	-	GPR125	GPR125	1	1	Leen Abu Safieh
00059793	-	-	-	-	-	-	-	-	-	-	RP;RCD	-	KIAA1549	KIAA1549	1	1	Leen Abu Safieh
00059797	-	-	-	M	yes	-	-	-	-	-	RP;RCD	-	RP1L1	RP1L1	1	1	Alice Davidson
00059897	-	-	5-generation family, 4 affecteds	-	yes	Pakistan	-	-	-	-	RP;RCD	-	TTC8	TTC8	1	1	Ivo F.A.C. Fokkema
00059925	-	PubMed: De Castro-Miró 2014	family, 4 patients	M	?	Spain	-	-	-	-	RP;RCD	-	RD3	RD3	1	4	Marta de Castro-Miró
00060208	-	-	-	-	-	-	-	-	-	-	RP;RCD	-	PITPNM3	PITPNM3	1	1	Marcel Nelen
00060209	-	-	-	-	-	-	-	-	-	-	RP;RCD	-	PITPNM3	PITPNM3	1	1	Marcel Nelen

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Global Variome shared LOVD