All individuals with variants in gene C8orf37

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.

49 entries on 1 page. Showing entries 1 - 49.

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
00033610	-	PubMed: Estrada-Cuzcano A	-	M	yes	-	-	-	-	-	-	retinal disease	onset infancy; RP with early macular involvement	2	1	Kornelia Neveling
00033611	-	-	-	-	yes	-	-	-	-	-	-	CORD	cone-rod dystrophy with polydactyly	2	1	Kornelia Neveling
00033612	-	-	-	-	yes	-	-	-	-	-	-	CORD	-	2	1	Kornelia Neveling
00033613	-	-	-	F	yes	-	-	-	-	-	-	retinal disease	RP with macular involvement	2	1	Kornelia Neveling
00155399	-	PubMed: Sharon 2019	2/2420 IRD families	F	yes	Israel	Druze	-	-	-	-	retinal disease	-	1	3	Dror Sharon
00155400	MOL0858	PubMed: Sharon 2015, PubMed: Sharon 2019	family	M	yes	Israel	Arab-Muslim	-	-	-	-	retinal disease	-	1	2	Dror Sharon
00233112	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233113	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	18	Yoshito Koyanagi
00233114	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233115	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1203 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	8	Yoshito Koyanagi
00233116	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00308999	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309628	FamAPatVI2	PubMed: Chen 2018	6-generation family, affected father/daughter/son, unaffected heterozygous carrier parents	F	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	3	Johan den Dunnen
00309629	FamAPatVI3	PubMed: Chen 2018	son	M	yes	China	-	-	-	-	-	retinal disease	see paper; ...	1	1	Johan den Dunnen
00309632	patient	PubMed: Khan 2016	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	yes	Saudi Arabia	-	-	-	-	-	retinal disease	see paper; ...	1	1	Johan den Dunnen
00309633	FamMA48	PubMed: Ravesh 2015	5-generation family, 3 affected brothers, unaffected heterozygous carrier parents/relatives	M	yes	Pakistan	-	-	-	-	-	retinal disease	see paper; ...	1	3	Johan den Dunnen
00309634	FamMA13	PubMed: Ravesh 2015	5-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives	F;M	yes	Pakistan	-	-	-	-	-	retinal disease	see paper; ...	1	2	Johan den Dunnen
00309635	patient	PubMed: Heon 2016	-	F	yes	Canada	white	-	-	-	-	retinal disease	see paper; ...	1	1	Johan den Dunnen
00309636	patient	PubMed: Rahner 2016	2-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives	F	yes	Morocco	-	-	-	-	-	retinal disease	see paper; ..., severe cone-rod dystrophy, cataract	1	2	Johan den Dunnen
00309637	family	PubMed: Katagiri 2016	2-generation family, affected sister/brother, unaffected heterozygous carrier parents	F;M	no	Japan	-	-	-	-	-	retinal disease	see paper; ..., early-onset retinal dystrophy, macular atrophy, cataract, high myopia	2	2	Johan den Dunnen
00309639	FamilyPat501	PubMed: Khan 2016	5-generation family, 8 affected (5F, 3M), unaffected heterozygous carrier parents/relatives	F	yes	Pakistan	-	-	-	-	-	retinal disease	see paper; ...	1	8	Johan den Dunnen
00309640	FamilyPat502	PubMed: Khan 2016	-	M	yes	Pakistan	-	-	-	-	-	retinal disease	see paper; ...	1	1	Johan den Dunnen
00309641	FamilyPat503	PubMed: Khan 2016	-	M	yes	Pakistan	-	-	-	-	-	retinal disease	see paper; ...	1	1	Johan den Dunnen
00309643	FamilyPat507	PubMed: Khan 2016	-	F	yes	Pakistan	-	-	-	-	-	retinal disease	see paper; ...	1	1	Johan den Dunnen
00309670	RP038	PubMed: Jinda 2014	-	M	-	Thailand	-	-	-	-	-	retinal disease	see paper; ...	1	1	Johan den Dunnen
00309681	MOL0858	PubMed: Lazar 2015	2-generation family, 3 affected (F, M)	F;M	-	Israel	Arab Muslim	-	-	-	-	retinal disease	see paper; ...	1	2	Global Variome, with Curator vacancy
00334413	RP-109	PubMed: Huang 2017	family	-	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00334564	RP038	PubMed: Jinda 2017	patient	-	-	Thailand	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00363617	10DG0622	PubMed: Patel 2016	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	non-syndromic	1	1	LOVD
00363659	11DG1769	PubMed: Patel 2016	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	non-syndromic	1	1	LOVD
00363678	12DG0138	PubMed: Patel 2016	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	non-syndromic	1	1	LOVD
00368957	4	PubMed: Wang 2014	-	F	?	United States	-	-	-	-	-	retinal disease	-	1	1	Stéphanie Cornelis
00372674	RP101	PubMed: Xu 2014	family	M	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00372711	RP229	PubMed: Xu 2014	-	-	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00373927	OGI-098-246	PubMed: Consugar 2015	-	-	-	United States	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00375431	RP#025	PubMed: Katagiri 2014	family	-	-	Japan	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00375432	RP#027	PubMed: Katagiri 2014	family	-	-	Japan	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00379816	2016101725	PubMed: Wang 2018	-	F	?	China	Han Chinese	-	-	-	-	retinal disease	-	2	1	LOVD
00386297	RP-506	PubMed: Rodriguez-Munoz 2020	family fRPN-GG, proband	F	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00390753	F9_IV.4	PubMed: Habibi 2020	Family F9, patient IV.4	M	-	Tunisia	-	-	-	-	-	retinal disease	Visual acuity right eye/left eye: 1/10_1/20, beaten-bronze aspect of the macula, peripheral RPE atrophy mild optic atrophy, narrowing of the vessels, macular atrophy, ERG: altered photopic and scotopic responses	1	1	LOVD
00390754	F9_IV.6	PubMed: Habibi 2020	Family F9, patient IV.6	F	-	Tunisia	-	-	-	-	-	retinal disease	Visual acuity right eye/left eye: hand movement_hand movement, macular atrophy	1	1	LOVD
00390755	F9_IV.2	PubMed: Habibi 2020	Family F9, patient IV.2	M	-	Tunisia	-	-	-	-	-	retinal disease	Visual acuity right eye/left eye: light perception_light perception, gliosis of the posterior pole, diffuse retinal atrophy, macular atrophy with parafoveolar gliosis	1	1	LOVD
00393505	-	PubMed: Liu-2020	-	F	-	-	-	-	-	-	-	retinal disease	-	2	1	LOVD
00395608	RP-2966	PubMed: Perea-Romero 2021	-	-	-	Spain	-	-	-	-	-	retinal disease	cone/cone-rod dystrophy, myopia, oligomenorrhea, global developmental delay, intellectual disability, polydactyly	1	1	LOVD
00395609	RP-2995	PubMed: Perea-Romero 2021	-	-	-	Spain	-	-	-	-	-	retinal disease	cataract, keratoconus, macular atrophy, rod-cone dystrophy, hearing impairment, obesity, abnormality of the endocrine system, diabetes mellitus	1	1	LOVD
00419692	070527	PubMed: Hitti-Malin 2022, Journal: Hitti-Malin 2022	-	F	-	-	-	-	-	-	-	retinal disease	-	1	1	Rebekkah Hitti-Malin
00426922	27_31	PubMed: Zhu 2022	family 27, individual 31	M	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00429983	-	PubMed: Panneman 2023	-	M	-	-	-	-	-	-	-	RP	-	1	1	Daan Panneman
00450721	073388	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	M	-	-	-	-	-	-	-	macular dystrophy	-	1	1	Rebekkah Hitti-Malin

Legend

How to query

Global Variome shared LOVD

C8orf37 (chromosome 8 open reading frame 37)