Disease #00112 (RP (retinitis pigmentosa (RP)), OMIM:268000)

Official abbreviation	RP
Name	retinitis pigmentosa (RP)
OMIM ID	268000
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	-
Individuals reported having this disease	1159
Phenotype entries for this disease	897
Associated with 22 genes	ADCK4, ARL3, BEST1, CC2D2A, CNGB1, DHDDS, EYS, HKDC1, IDH3A, IMPG1, KIF3B, NR2E3, POC5, PRPF8, RNU4-2, RNU6-1, RNU6-2, RNU6-8, RNU6-9, SLC7A14, SMG8, TMEM216
Associated tissues	-
Disease features	-
Remarks	-
Date created	2013-02-21 17:12:36 +01:00 (CET)
Date last edited	2021-01-18 09:53:26 +01:00 (CET)

Individuals

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

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

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

Remarks: remarks about the individual

Gender: gender individual
All options:

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

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

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

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

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Operator	Column type	Example	Matches
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\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
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^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
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combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
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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
>	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
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>=	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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1159 entries on 12 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6	7	8	9	10	11	...		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
00001781	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	-	RHO	1	1	Feng Wang
00001782	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	-	RPGR	1	1	Feng Wang
00001783	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	-	PRPH2, ROM1	2	1	Feng Wang
00001784	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	-	PRPF31	1	1	Feng Wang
00001785	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	-	USH2A	1	1	Feng Wang
00001786	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	-	RPE65	1	1	Feng Wang
00001787	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	-	BBS1	1	1	Feng Wang
00001788	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	-	BBS1	1	1	Feng Wang
00001789	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	-	RDH12	2	1	Feng Wang
00001790	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	-	RDH12	2	1	Feng Wang
00001791	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	-	ABCA4	4	1	Feng Wang
00001792	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	-	SNRNP200	1	1	Feng Wang
00001793	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	-	PDE6A	2	1	Feng Wang
00001794	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	-	USH2A	2	1	Feng Wang
00001795	-	PubMed: Wang 2014a	-	-	-	(United States)	-	-	-	-	-	RP	-	-	MERTK	1	1	Feng Wang
00001796	-	PubMed: Wang 2014a	-	-	-	(United States)	-	-	-	-	-	RP	-	-	MERTK	1	1	Feng Wang
00001797	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	-	RPGR	1	1	Feng Wang
00001798	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	-	-	-	1	Feng Wang
00001799	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	-	PRPF31	1	1	Feng Wang
00001800	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	-	RPGR	1	1	Feng Wang
00001801	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	-	CRX	1	1	Feng Wang
00001802	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	-	RGR	1	1	Feng Wang
00001803	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	-	PRPF31	1	1	Feng Wang
00001804	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	-	PROM1	2	1	Feng Wang
00001805	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	-	CNGA1	2	1	Feng Wang
00001806	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	-	PRPF8	1	1	Feng Wang
00001807	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	-	PROM1	2	1	Feng Wang
00001808	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	-	PDE6B	2	1	Feng Wang
00001809	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	-	ABCA4	2	1	Feng Wang
00001810	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	-	PRCD	1	1	Feng Wang
00001811	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	-	USH2A	2	1	Feng Wang
00001812	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	-	TULP1	2	1	Feng Wang
00001813	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	-	RDH12	2	1	Feng Wang
00001814	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	-	NPHP1	1	1	Feng Wang
00001815	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	-	RDH5	1	1	Feng Wang
00001816	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	-	CYP4V2	2	1	Feng Wang
00001817	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	-	CYP4V2	2	1	Feng Wang
00001818	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	-	CYP4V2	2	1	Feng Wang
00001819	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	-	BBS2	1	1	Feng Wang
00001820	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	-	JAG1	1	1	Feng Wang
00001821	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	-	NPHP4	2	1	Feng Wang
00001822	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	-	CYP4V2	2	1	Feng Wang
00001823	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	-	BBS5	1	1	Feng Wang
00001824	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	-	CDHR1	1	1	Feng Wang
00001825	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	-	GPR98	2	1	Feng Wang
00001826	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	-	USH1C	2	1	Feng Wang
00001827	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	-	CLN3	2	1	Feng Wang
00003028	-	PubMed: Neveling 2013	-	-	-	-	-	-	-	-	-	RP	-	USH2A	USH2A	2	1	Marcel Nelen
00003093	-	-	-	M	yes	United Kingdom (Great Britain)	white	-	-	-	-	obesity, RP	-	TUB	-	-	1	Laura Pearce
00016423	-	-	-	F	yes	Libya	-	-	-	-	-	RP	ataxia, retinal dystrophy, neuropathy	PDE6A, SH3TC2	PDE6A, SH3TC2	2	1	Jill Urquhart
00016542	-	PubMed: Coussa 2013	-	F	?	Canada	Quebec	-	-	-	-	RP	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	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	-	PubMed: Abu-Safieh-2013	-	-	-	-	-	-	-	-	-	RP	-	CERKL	CERKL	1	1	Leen Abu Safieh
00059788	-	PubMed: Abu-Safieh-2013	-	-	yes	-	-	-	-	-	-	RP	-	RBP3	RBP3	1	1	Leen Abu Safieh
00059789	-	PubMed: Abu-Safieh-2013	-	-	-	-	-	-	-	-	-	RP	-	LCA5	LCA5	1	1	Leen Abu Safieh
00059791	-	PubMed: Abu-Safieh-2013	-	-	-	-	-	-	-	-	-	RP	-	EMC1	EMC1	1	1	Leen Abu Safieh
00059792	-	PubMed: Abu-Safieh-2013	-	-	-	-	-	-	-	-	-	RP	-	GPR125	GPR125	1	1	Leen Abu Safieh
00059793	-	PubMed: Abu-Safieh-2013	-	-	-	-	-	-	-	-	-	RP	-	KIAA1549	KIAA1549	1	1	Leen Abu Safieh
00059797	RD2	-	-	M	yes	United Kingdom (Great Britain)	-	-	-	-	-	RP	-	RP1L1	RP1L1	1	1	Alice Davidson
00059897	-	-	5-generation family, 4 affecteds	-	yes	Pakistan	-	-	-	-	-	RP	-	TTC8	TTC8	1	1	Ivo F.A.C. Fokkema
00059925	-	PubMed: De Castro-Miró 2014	family, 4 patients	M	?	Spain	-	-	-	-	-	RP	-	RD3	RD3	1	4	Marta de Castro-Miró
00060111	-	-	-	?	?	United Kingdom (Great Britain)	-	-	-	-	-	RP	-	RP1L1	RP1L1	1	1	Alice Davidson
00060112	-	-	-	-	?	United Kingdom (Great Britain)	-	-	-	-	-	RP	-	RP1L1	RP1L1	1	1	Alice Davidson
00060113	-	-	-	?	?	United Kingdom (Great Britain)	-	-	-	-	-	RP	-	RP1L1	RP1L1	1	1	Alice Davidson
00060114	-	-	-	?	?	United Kingdom (Great Britain)	-	-	-	-	-	RP	-	RP1L1	RP1L1	1	1	Alice Davidson
00060115	-	-	-	-	?	United Kingdom (Great Britain)	-	-	-	-	-	RP	-	RP1L1	RP1L1	1	1	Alice Davidson
00060116	-	-	-	-	?	United Kingdom (Great Britain)	-	-	-	-	-	RP	-	RP1L1	RP1L1	1	1	Alice Davidson
00060117	RD1PatIV4	PubMed: Davidson 2013	5-generation family, 3 affected (F, 2M)	M	yes	United Kingdom (Great Britain)	-	-	-	-	-	RP	-	RP1L1	RP1L1	1	3	Alice Davidson
00060208	Pat9bl	PubMed: Neveling 2013	-	-	-	-	-	-	-	-	-	RP	-	PITPNM3	PITPNM3	1	1	Marcel Nelen
00060209	Pat10bl	PubMed: Neveling 2013	-	-	-	-	-	-	-	-	-	RP	-	PITPNM3	PITPNM3	1	1	Marcel Nelen
00362059	FamAPatII2	PubMed: Fadaie 2022	2-generation family, 1 affected, unaffected heterozygous carrier mother/sister	M	no	Netherlands	-	-	-	-	-	RP	cataract and nystagmus	-	BBS1	2	1	Zeinab Fadaie
00362060	FamBPatII1	PubMed: Fadaie 2022	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	no	Netherlands	-	-	-	-	-	RP	-	-	BBS1	2	1	Zeinab Fadaie
00362061	FamCPatII1	PubMed: Fadaie 2022	-	M	no	Ireland	-	-	-	-	-	RP	-	-	BBS1	2	1	Zeinab Fadaie
00362062	FamDPatII1	PubMed: Fadaie 2022	2-generation family, 1 affected, unaffected heterozygous carrier mother	F	no	England	-	-	-	-	-	RP	-	-	BBS1	2	1	Zeinab Fadaie
00378015	IR_SH_0005	-	-	F	-	Korea, South (Republic)	-	-	-	-	-	RP	HP:0032037, HP:0000662, HP:0001133, HP:0000007, HP:0000510	-	EYS	2	1	Jinu Han
00378021	IR_SH_0009	-	-	M	-	Korea, South (Republic)	-	-	-	-	-	RP	HP:0032037, HP:0000662, HP:0000613, HP:0001133, HP:0000007	-	EYS	1	1	Jinu Han
00378026	IR_SH_0011	-	-	M	-	Korea, South (Republic)	-	-	-	-	-	RP	-	-	RPGR	1	1	Jinu Han
00378027	IR_SH_0012	-	-	M	-	Korea, South (Republic)	-	-	-	-	-	RP	HP:0032122, HP:0000662, HP:0001139, HP:0000006, HP:0000510	-	PROM1	1	1	Jinu Han
00378030	IR_SS_0016	-	-	F	-	Korea, South (Republic)	-	-	-	-	-	RP	HP:0032037, HP:0000662, HP:0000613, HP:0001133, HP:0000007, HP:0000510	-	USH2A	2	1	Jinu Han
00378031	IR_SH_0017	-	-	M	-	Korea, South (Republic)	-	-	-	-	-	RP	HP:0030515, HP:0000662, HP:0000613, HP:0001133, HP:0000007, HP:0000510	-	EYS	2	1	Jinu Han
00378034	IR_SH_0021	-	-	M	-	Korea, South (Republic)	-	-	-	-	-	RP	HP:0000662, HP:0000613, HP:0001133, HP:0001417, HP:0000510	-	RPGR	1	1	Jinu Han
00378049	IR_SH_0022	-	-	F	-	Korea, South (Republic)	-	-	-	-	-	RP	HP:0032037, HP:0000662, HP:0001133, HP:0000007, HP:0000510	-	EYS	2	1	Jinu Han
00378050	IR_SH_0024	-	-	F	-	Korea, South (Republic)	-	-	-	-	-	RP	HP:0032037, HP:0000662, HP:0000613, HP:0001133, HP:0000007, HP:0000510	-	USH2A	2	1	Jinu Han
00378051	IR_SH_0025	-	-	F	-	Korea, South (Republic)	-	-	-	-	-	RP	HP:0032037, HP:0000662, HP:0000613, HP:0001133, HP:0000007, HP:0000510	-	EYS	1	1	Jinu Han
00378052	IR_SH_0029	-	-	M	-	Korea, South (Republic)	-	-	-	-	-	RP	HP:0032037, HP:0000662, HP:0001133, HP:0000007, HP:0000510	-	EYS	1	1	Jinu Han
00378053	IR_SS_0031	-	-	F	-	Korea, South (Republic)	-	-	-	-	-	RP	HP:0001141, HP:0000662, HP:0000613, HP:0001133, HP:0000007, HP:0000510	-	PDE6B	2	1	Jinu Han
00378054	IR_SB_0032	-	-	F	-	Korea, South (Republic)	-	-	-	-	-	RP	HP:0032037, HP:0000613, HP:0001133, HP:0000510	-	IMPG1	1	1	Jinu Han
00378057	IR_SS_0037	-	-	F	-	Korea, South (Republic)	-	-	-	-	-	RP	HP:0032037, HP:0000662, HP:0001133, HP:0000510	-	MAK	2	1	Jinu Han
00378058	IR_SH_0038	-	-	M	-	Korea, South (Republic)	-	-	-	-	-	RP	HP:0032037, HP:0000662, HP:0001133, HP:0000006, HP:0000510	-	PRPH2	1	1	Jinu Han
00378065	IR_SH_0046	-	-	M	-	Korea, South (Republic)	-	-	-	-	-	RP	HP:0032122, HP:0000662, HP:0000613, HP:0001133, HP:0000551, HP:0001288, HP:0000007, HP:0000510	-	EYS	2	1	Jinu Han
00378067	IR_SH_0050	-	-	F	-	Korea, South (Republic)	-	-	-	-	-	RP	HP:0000662, HP:0000613, HP:0001133, HP:0000510	-	EYS	2	1	Jinu Han
00378070	IR_SH_0055	-	-	M	-	Korea, South (Republic)	-	-	-	-	-	RP	HP:0032037, HP:0000662, HP:0000613, HP:0001133, HP:0000551, HP:0000007, HP:0000510	-	EYS	2	1	Jinu Han
00379534	IR_SH_0056	-	-	M	-	Korea, South (Republic)	-	-	-	-	-	RP	HP:0000662, HP:0000613, HP:0001133, HP:0000551, HP:0001288, HP:0000510	-	EYS	2	1	Jinu Han
00379535	IR_SH_0058	-	-	F	-	Korea, South (Republic)	-	-	-	-	-	RP	HP:0000613, HP:0001133, HP:0000551, HP:0003745, HP:0000510	-	CNGB1	2	1	Jinu Han
00379537	IR_SH_0060	-	-	F	-	Korea, South (Republic)	-	-	-	-	-	RP	HP:0000662, HP:0001133, HP:0000007, HP:0000510	-	EYS	2	1	Jinu Han
00379539	IR_SS_0062	-	-	M	-	Korea, South (Republic)	-	-	-	-	-	RP	HP:0000662, HP:0000613, HP:0001417, HP:0000510, HP:0001133	-	RPGR	1	1	Jinu Han
00379540	IR_SH_0063	-	-	M	-	Korea, South (Republic)	-	-	-	-	-	RP	HP:0000662, HP:0000613, HP:0003745, HP:0000510, HP:0001133	-	RP1	1	1	Jinu Han
00379543	IR_GS_0001	-	-	F	-	Korea, South (Republic)	-	-	-	-	-	RP	HP:0000662, HP:0000613, HP:0001133, HP:0032037, HP:0000007, HP:0000510	-	USH2A	1	1	Jinu Han
00379544	IR_GH_0002	-	-	M	-	Korea, South (Republic)	-	-	-	-	-	RP	HP:0001133, HP:0000639, HP:0001141, HP:0001417, HP:0000510	-	RP2	1	1	Jinu Han
00379545	IR_GS_0003	-	-	F	-	Korea, South (Republic)	-	-	-	-	-	RP	HP:0000662, HP:0000613, HP:0001133, HP:0032037, HP:0000007, HP:0000510	-	EYS	2	1	Jinu Han

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Global Variome shared LOVD

FASTK (Fas-activated serine/threonine kinase)