All individuals with variants in gene RCBTB1

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.

52 entries on 1 page. Showing entries 1 - 52.

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
00183355	27486781-FamF2	PubMed: Coppieters 2016	2-generation family, 3 affected sibs (F, 2M), unaffected heterozygous carrier parents/relatives	F;M	-	Italy	-	-	-	-	-	retinal disease	see paper; ..., progressive pattern-like reticular dystrophy	1	3	Johan den Dunnen
00183356	27486781-FamF3	PubMed: Coppieters 2016	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	Greece	-	-	-	-	-	retinal disease	central chorioretinal atrophy, peripheral reticular dystrophy, thyroid nodules, cold intolerance, dyslipidemia (son with autism and ID)	1	1	Johan den Dunnen
00183357	27486781-FamF4	PubMed: Coppieters 2016	3-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents/relatives	F;M	-	Greece	-	-	-	-	-	retinal disease	central chorioretinal atrophy, peripheral reticular dystrophy, sensorineural hearing loss (adult onset), ...	1	4	Johan den Dunnen
00183358	27486781-FamF5	PubMed: Coppieters 2016	3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	F	yes	Algeria	-	-	-	-	-	retinal disease	progressive pattern-like reticular dystrophy, lung fibrosis	2	1	Johan den Dunnen
00183359	27486781-FamF6	PubMed: Coppieters 2016	3-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	China	-	-	-	-	-	retinal disease	retinal dystrophy starting with bilateral vision loss, fundus with bilateral irregular pigmentations mainly in the mid-periphery	1	1	Johan den Dunnen
00263089	E9 III-2	PubMed: Wu 2016	family of 3-generations, 2 affected	M	no	Taiwan	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (HP:0030490); no sign of retinitis pigmentosa (HP:0000510); left eye: total traction retinal detachment (HP:0007917), corneal opacity (HP:0007957), retinal hole (HP:0011530)	1	2	Jasmine Chen
00263295	E9 III-4	PubMed: Wu 2016	3 generation family, 2 affected	M	no	Taiwan	-	-	-	-	right eye intraocular lens implantation	EVR;FEVR	familial exudative retinopathy (HP:0030490), right eye fibrovascular stalk (HP:0007968), left eye (HP:0001103)	1	1	Jasmine Chen
00263296	E5 II-1	PubMed: Wu 2016	2 generation family, 1 affected	M	no	Taiwan	-	-	-	-	cryopexy, pars plana vitrectomy, removal of subretinal fibrous cord	EVR;FEVR	subretinal lipid exudate (HP:0011532), right eye exudative retinal detachment (HP:0012231), right eye Coats disease (HP:0030490), left eye aphakia (HP:0007707)	1	1	Jasmine Chen
00263300	F1 V:1	PubMed: Coppieters 2016	5 generation consanguineous family, 3 affected	F	yes	Belgium	Turkish	-	-	-	-	EVR;FEVR, retinal disease	severe retinitis pigmentosa (HP:0000510), goiter (HP:0000853), primary ovarian insufficiency (HP:0008209), mild intellectual disability (HP:0001256)	1	3	Jasmine Chen
00263407	III:2:P4	PubMed: Van Cauwenbergh 2016	4 generation family, 2 affected	M	no	Belgium	-	-	-	-	-	retinal disease	retinitis pigmentosa (HP:0000510), night blindness (HP:0000662), chorioretinal atrophy (HP:0000533)	2	2	Jasmine Chen
00358947	Case71472	PubMed: Tiwari 2016	see paper	F	-	Switzerland	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00389837	1121	PubMed: Weisschuh 2020	Filing key number: 765, cone-rod dystrophy, no patient Ids, consecutive numbers given	M	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	1	1	LOVD
00395863	F171	PubMed: Chen 2021	-	?	-	Taiwan	-	-	-	-	-	retinal disease	-	1	1	LOVD
00395917	F238	PubMed: Chen 2021	-	?	-	Taiwan	-	-	-	-	-	retinal disease	-	1	1	LOVD
00395933	F282	PubMed: Chen 2021	-	?	-	Taiwan	-	-	-	-	-	retinal disease	-	1	1	LOVD
00413762	-	PubMed: Huang-2019	-	F	-	-	Singaporean-Chinese	-	-	-	-	retinal disease	-	2	1	LOVD
00413763	16755	PubMed: Yang 2020	-	-	-	-	-	-	-	-	-	retinal disease	attenuated retinal arterioles and tapetoretinal degeneration with intraretinal pigment, severe visual field loss, and significantly reduced rod and cone responses with full field ERG	2	1	LOVD
00413764	11465	PubMed: Yang 2020	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00413765	9948	PubMed: Yang 2020	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00413766	6237	PubMed: Yang 2020	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00413767	16538	PubMed: Yang 2020	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00413768	12790	PubMed: Yang 2020	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00413769	17842	PubMed: Yang 2020	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00413770	6540	PubMed: Yang 2020	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00413771	8126	PubMed: Yang 2020	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00413772	7973	PubMed: Yang 2020	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00413773	6391	PubMed: Yang 2020	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00413774	10442	PubMed: Yang 2020	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00413775	794	PubMed: Yang 2020	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00413776	1228	PubMed: Yang 2020	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00413777	8739	PubMed: Yang 2020	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00413778	9192	PubMed: Yang 2020	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00413779	18927	PubMed: Yang 2020	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00413780	9923	PubMed: Yang 2020	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00413781	7317	PubMed: Yang 2020	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00413782	6163	PubMed: Yang 2020	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00413783	5284	PubMed: Yang 2020	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00413784	6874	PubMed: Yang 2020	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00413785	5208	PubMed: Yang 2020	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00413786	NC1	PubMed: Yang 2020	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	LOVD
00413787	12782	PubMed: Yang 2020	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00413788	4673	PubMed: Yang 2020	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00413789	19024	PubMed: Yang 2020	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00413790	NC2, NC3	PubMed: Yang 2020	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	2	LOVD
00420492	F171	PubMed: Chen 2021	-	-	-	Taiwan	-	-	-	-	-	retinal disease	-	1	1	LOVD
00420540	F238	PubMed: Chen 2021	-	-	-	Taiwan	-	-	-	-	-	retinal disease	-	1	1	LOVD
00420571	F282	PubMed: Chen 2021	-	-	-	Taiwan	-	-	-	-	-	retinal disease	-	1	1	LOVD
00429604	-	PubMed: Panneman 2023	-	F	-	-	-	-	-	-	-	RP	-	2	1	Daan Panneman
00429710	-	PubMed: Panneman 2023	-	M	-	-	-	-	-	-	-	RP	-	1	1	Daan Panneman
00430075	-	PubMed: Panneman 2023	-	F	-	-	-	-	-	-	-	RP	-	1	1	Daan Panneman
00447544	CRD-843	PubMed: Weisschuh 2024	patient, no family history	M	-	Germany	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00447685	MISC-301	PubMed: Weisschuh 2024	family, 2 affected	F	-	Germany	-	-	-	-	-	?	-	1	2	Johan den Dunnen

Legend

How to query

Global Variome shared LOVD

RCBTB1 (regulator of chromosome condensation (RCC1)...)