All individuals with variants in gene C21orf2

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.

67 entries on 1 page. Showing entries 1 - 67.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00059794	-	PubMed: Abu-Safieh-2013	-	-	-	-	-	-	-	-	-	CORD	-	1	1	Leen Abu Safieh
00104990	A10.1	PubMed: de Castro-Miró 2016	-	M	no	Spain	-	-	-	-	-	SMDCRD	-	2	1	Marta de Castro-Miró
00155393	-	Sharon, submitted	-	F	yes	Israel	Morocco;Jewish	-	-	-	-	retinal disease	-	1	2	Dror Sharon
00209023	28771251-Pat40	PubMed: Lionel 2018	-	M	-	Canada	-	-	-	-	-	RD	Retinal dystrophy	1	1	Johan den Dunnen
00248833	FamUCL-111P1/P2	PubMed: Wheway 2015	2-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives	F;M	-	-	white, Europe (north)	-	-	-	-	SRTD	see paper; ...	2	2	Johan den Dunnen
00248834	FamUCL78P1	PubMed: Wheway 2015	2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	M	-	United States	white, Europe (north)	-	-	-	-	SRTD	see paper; ..., narrow thorax, pelvic bone malformation, retinal degeneration due to cone-rod dystrophy in childhood, no impairment renal function	2	1	Johan den Dunnen
00248835	FamGC4693Pat1/2/3/4/5	PubMed: Wheway 2015	2-generation family, 5 affected (2F, 3M), unaffected heterozygous carrier parents/relatives	F;M	-	-	-	00y00m15d	-	-	-	SRTD	see paper; ..., cone-rod dystrophy, severe scoliosis, hip dysplasia	1	1	Johan den Dunnen
00248836	FamCR-F024P1	PubMed: Wheway 2015	2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	F	yes	-	-	-	-	-	-	CORD	see paper; ..., isolated cone-rod dystrophy, skeletal involvement	1	1	Johan den Dunnen
00248837	FamF1P1	PubMed: Wheway 2015	-	-	-	-	-	-	-	-	-	CORD	-	1	1	Johan den Dunnen
00303489	-	-	-	M	-	-	-	-	-	-	-	?	Rod-cone dystrophy (HP:0000510)	2	1	IMGAG
00308604	-	PubMed: Holtan 2020	1 homozygous patient	-	-	Norway	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00308986	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00308987	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00308988	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00324526	patient	PubMed: Kominami 2019, PubMed: Kominami 2017, Journal: Kominami 2017	2-generation family, 1 affected, unaffected parents	M	no	Japan	-	>20y	-	-	-	COD	see paper; ..., decreased central vision (HP:0007663), extreme photophobia (HP:0000613), progressive visual loss in both eyes (HP:0000529), dyschromatopsia (HP:0007641), absent rod-and cone-mediated responses on ERG (HP:0007688)	1	1	Najlae Akhiyate
00327459	FamPatII2	PubMed: Kurashige 2019	3-generation family, 2 affected sisters	F	yes	Japan	-	>64y	-	-	-	?	see paper; ..., amyotrophic lateral sclerosis (HP:0007354), retinitis pigmentosa (HP:0000510), slowly progressive generalized muscle weakness (HP:0003324), dysphagia (HP:0002015)see paper; ..., amyotrophic lateral sclerosis (HP:0007354), retinitis pigmentosa (HP:0000510), generalized muscle weakness (HP:0003324)	1	2	Mariah De Bruin
00327460	FamPatII6	PubMed: Kurashige 2019	sister	F	yes	Japan	-	>57y	-	-	-	?	see paper; ..., childhood retinitis pigmentosa (HP:0000510), 50s-muscle weakness (HP:0003324), 30s-Crohn’s disease (HP:0100280)	1	1	Mariah De Bruin
00327462	SKDP-144.3	PubMed: McInerney-Leo 2017	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	no	Australia	-	>30y	-	-	-	?	see paper; ..., 8m-leg bowing; 2y-hyperopic astigmatism; retinal dystrophy (HP:0000556); 3y-shortened and thickened ribs; narrow chest (HP:0000774), scoliosis (HP:0002650), short stature (HP:0004322)	1	1	Mariah De Bruin
00327504	Pat1	PubMed: Khan 2015	2-generation family, 1 affected, unaffected parents	F	yes	Saudi Arabia	-	-	-	-	-	retinal disease	see paper; ..., early-onset retinal dystrophy (HP:0000556), nyctalopia (HP:0000662), retinal pigment epithelial mottling (HP:0007814), macular staphyloma	1	1	LOVD
00327505	Pat2	PubMed: Khan 2015	2-generation family, 1 affected, unaffected parents	F	yes	Saudi Arabia	-	-	-	-	-	retinal disease	see paper; ..., early-onset retinal dystrophy (HP:0000556), nyctalopia (HP:0000662), retinal pigment epithelial mottling (HP:0007814), macular staphyloma	1	1	LOVD
00327506	Pat3	PubMed: Khan 2015	2-generation family, 1 affected, unaffected heterozygous mother/sister	F	yes	Saudi Arabia	-	-	-	-	-	retinal disease	see paper; ..., early-onset retinal dystrophy (HP:0000556), nyctalopia (HP:0000662), retinal pigment epithelial mottling (HP:0007814), macular staphyloma	1	1	LOVD
00327507	Fam1	PubMed: Wang 2016	2-generation family, 2 affected (F, M), unaffected heterozygous parents	F;M	yes	Saudi Arabia	-	-	-	-	-	?	see paper; ...	1	2	LOVD
00327508	Fam5	PubMed: Wang 2016	2-generation family, 1 affected, unaffected heterozygous parents	M	-	Korea	-	-	-	-	-	?	see paper; ...	2	1	LOVD
00327509	Fam6	PubMed: Wang 2016	2-generation family, 1 affected, unaffected heterozygous parents	M	yes	France	-	-	-	-	-	?	see paper; ...	1	1	LOVD
00327510	Fam7	PubMed: Wang 2016	2-generation family, 1 affected, unaffected heterozygous parents	M	yes	Saudi Arabia	-	-	-	-	-	?	see paper; ...	1	1	LOVD
00327511	Fam8	PubMed: Wang 2016	2-generation family, 3 affected, (2F, M) unaffected heterozygous parents	F;M	yes	Turkey	-	-	-	-	-	?	see paper; ...	1	3	LOVD
00327512	Fam9	PubMed: Wang 2016	2-generation family, 2 affected (F, M), unaffected heterozygous parents	F	-	Sweden	-	-	-	-	-	?	see paper; ...	1	2	LOVD
00327513	Fam1	PubMed: Suga 2016	2-generation family, 2 affected (F, M), unaffected heterozygous parents	F;M	-	Japan	-	-	-	-	-	retinal disease	see paper; ..., retinitis pigmentosa , short stature, nightblindness	2	2	LOVD
00327514	Fam2	PubMed: Suga 2016	2-generation family, 2 affected (F, M), unaffected heterozygous parents	F;M	-	Japan	-	-	-	-	-	retinal disease	see paper; ...	1	2	LOVD
00327515	FamPatII4	PubMed: Gustafson 2017	3-generation family, 3 affected (3F), unaffected heterozygous parents	F	yes	United States	Jewish-Ashkenazi	-	-	-	-	retinal disease	see paper; ...	1	3	LOVD
00328082	G004999	PubMed: Carss 2017, PubMed: Turro 2020	-	F	-	United Kingdom (Great Britain)	Europe	-	-	-	-	retinal disease	-	2	1	LOVD
00328142	G005543	PubMed: Carss 2017, PubMed: Turro 2020	-	F	-	United Kingdom (Great Britain)	Europe	-	-	-	-	retinal disease	-	2	1	LOVD
00328152	G006005	PubMed: Carss 2017, PubMed: Turro 2020	-	F	-	United Kingdom (Great Britain)	Europe	-	-	-	-	retinal disease	-	1	1	LOVD
00331334	10DG1767, 10DG1768, 10DG1769	PubMed: Maddirevula 2018	family, 3 affected (F, 2M)	F;M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Short stature, Hypermetropia, Strabismus, Rhizomelia, Micrognathia, Generalized joint la No	1	3	LOVD
00331335	11DG0973	PubMed: Maddirevula 2018	isolated case	F	yes	-	Arab	-	-	-	-	skeletal dysplasia	Retinal dystrophy, Short stature, Narrow chest, Short ribs, Horizontal ribs, Skeletal dysplaYes	1	1	LOVD
00331336	13DG0374, 13DG0375	PubMed: Maddirevula 2018	family, 2 affected (F, M)	F;M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Retinal dystrophy, Short stature, Narrow chest	1	2	LOVD
00358801	BLM033	PubMed: Zhang 2016	simplex case	F	-	United States	Hispanic	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00362086	QT803	PubMed: Huang 2016	-	-	-	China	-	-	-	-	-	retinal disease	-	2	1	Johan den Dunnen
00362222	Pat6	PubMed: Fadaie 2021	-	-	-	Ireland	-	-	-	-	-	retinal disease	-	1	1	Zeinab Fadaie
00362223	Pat5	PubMed: Fadaie 2021	-	-	-	Ireland	-	-	-	-	-	retinal disease	-	2	1	Zeinab Fadaie
00363758	10DG1769	PubMed: Patel 2016	2-generation family, 3 affected	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	see paper; ..., short stature, cone-rod dystrophy	1	3	Johan den Dunnen
00377177	242	Tracewska 2021, MolVis in press	proband	M	no	Poland	Slavic	-	-	yes	-	retinal disease	see paper	1	1	LOVD
00377193	269	Tracewska 2021, MolVis in press	proband	M	no	Poland	Slavic	-	-	yes	-	retinal disease	see paper	1	1	LOVD
00379814	2017010402	PubMed: Wang 2018	-	F	?	China	Han Chinese	-	-	-	-	retinal disease	-	2	1	LOVD
00380303	-	PubMed: Abu-Safieh-2013	# affected:3 (2)	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	-	1	3	LOVD
00381891	41	PubMed: Birtel 2018	-	F	-	Germany	-	-	-	-	-	retinal disease	-	2	1	LOVD
00386173	RPN-285	PubMed: Rodriguez-Munoz 2020	-	?	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00386188	RPN-299	PubMed: Rodriguez-Munoz 2020	-	?	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00386224	RPN-402	PubMed: Rodriguez-Munoz 2020	family fRPN-183, proband	F	-	Spain	-	-	-	-	-	retinal disease	-	2	1	LOVD
00386225	RPN-403	PubMed: Rodriguez-Munoz 2020	family fRPN-183, family member	M	-	Spain	-	-	-	-	-	retinal disease	-	2	1	LOVD
00386260	RPN-608	PubMed: Rodriguez-Munoz 2020	family fRPN-238, proband	F	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00386272	RPN-147	PubMed: Rodriguez-Munoz 2020	family fRPN-58, family member	F	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00386273	RPN-148	PubMed: Rodriguez-Munoz 2020	family fRPN-58, proband	F	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00387032	58	PubMed: Jauregui 2020	-	F	-	(United States)	white	-	-	-	-	retinal disease	-	1	1	LOVD
00389526	810	PubMed: Weisschuh 2020	Filing key number: 326, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given	M	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	1	1	LOVD
00389734	1018	PubMed: Weisschuh 2020	Filing key number: 520, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given	M	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	2	1	LOVD
00389789	1073	PubMed: Weisschuh 2020	Filing key number: 696, cone-rod dystrophy, no patient Ids, consecutive numbers given	F	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	1	1	LOVD
00393626	-	PubMed: Liu-2020	-	F	-	-	-	-	-	-	-	retinal disease	-	2	1	LOVD
00435041	-	-	-	M	no	China	-	>07y	-	-	none	CORD	-	2	1	SQ Yang
00436590	2701426	Villafuerte-de la Cruz RA, et al., 2023. Submitted	-	M	no	Mexico	Hispanic	-	-	-	NONE	retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness	Retinal dystrophy (HP:0000556)	2	1	Rocio Villafuerte-de la Cruz
00447297	SRP-1198	PubMed: Weisschuh 2024	patient, no family history	M	-	Germany	-	-	-	-	-	?	-	2	1	Johan den Dunnen
00447538	CRD-803	PubMed: Weisschuh 2024	patient, no family history	F	-	Germany	-	-	-	-	-	?	-	2	1	Johan den Dunnen
00450776	067285	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	M	-	-	-	-	-	-	-	macular dystrophy	-	1	1	Rebekkah Hitti-Malin
00450777	073880	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	F	-	-	-	-	-	-	-	macular dystrophy	-	1	1	Rebekkah Hitti-Malin
00450778	074614	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	F	-	-	-	-	-	-	-	macular dystrophy	-	1	1	Rebekkah Hitti-Malin
00467831	MEP-662	PubMed: Hussain 2023	2-generation family, affected brother/sister, unaffected parents	M	-	United States	Asia	-	-	-	-	retinal disease	see paper; ..., BVCA right 20/70+1, left 20/70+1; gradual tilting RNFL over time; primary congenital glaucoma, subnormal visual acuity, severe cone and mild rod dysfunction	2	2	Johan den Dunnen
00467832	MEP-663	PubMed: Hussain 2023	sister	F	-	United States	Asian	-	-	-	-	retinal disease	see paper; ..., BVCA right 20/150 , left 20/150+1; low vision from cone–rod dystrophy; hyperopia, nystagmus, astigmatism, intermittent exotropia OU, progressive cone–rod dystrophy	2	1	Johan den Dunnen

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How to query

Global Variome shared LOVD

C21orf2 (chromosome 21 open reading frame 2)