Disease #05130 (CSNB (blindness, night, stationary, congenital (CSNB)))

Official abbreviation	CSNB
Name	blindness, night, stationary, congenital (CSNB)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	102
Phenotype entries for this disease	98
Associated with 2 genes	LRIT3, RIMS2
Associated tissues	-
Disease features	-
Remarks	-
Date created	2016-02-03 23:24:36 +01:00 (CET)
Date last edited	N/A

Individuals

Legend

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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:

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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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'

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102 entries on 2 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2		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
00058628	-	PubMed: Neuillé 2016	-	-	-	-	-	-	-	-	-	CSNB	Riggs type of electroretinogram	SLC24A1	SLC24A1	2	1	Christina Zeitz
00058629	-	PubMed: Neuillé 2016	-	-	-	-	-	-	-	-	-	CSNB	Riggs type of electroretinogram	SLC24A1	SLC24A1	2	1	Christina Zeitz
00058630	-	PubMed: Neuillé 2016	-	-	yes	-	-	-	-	-	-	CSNB	-	SLC24A1	SLC24A1	2	1	Christina Zeitz
00064671	-	PubMed: Vincent 2016, Journal: Vincent 2016	2 affected brothers; 3-generation family, 3 affecteds (F, 2M), unaffected carrier parents	M	no	Canada	Lebanese;Armenian	-	-	-	-	CSNB	see paper; ...	GNB3	GNB3	2	3	Johan den Dunnen
00064672	-	PubMed: Vincent 2016, Journal: Vincent 2016	aunt affected borthers	F	?	Canada	Armenian	-	-	-	-	CSNB	see paper; ...	GNB3	GNB3	1	1	Johan den Dunnen
00064673	-	PubMed: Vincent 2016, Journal: Vincent 2016	4-generation family, 1 affected, unaffected heterozygous carrier parents	F	yes	France	-	-	-	-	-	CSNB	see paper; ...	GNB3	GNB3	1	1	Johan den Dunnen
00087820	-	PubMed: Audo 2012	-	-	-	-	-	-	-	-	-	CSNB	-	GPR179	GPR179	1	1	SIB - Livia Famiglietti
00087821	-	PubMed: Audo 2012	-	-	-	-	-	-	-	-	-	CSNB	-	GPR179	GPR179	1	1	SIB - Livia Famiglietti
00087822	-	PubMed: Audo 2012	-	-	-	-	-	-	-	-	-	CSNB	-	GPR179	GPR179	1	1	SIB - Livia Famiglietti
00087823	-	PubMed: Audo 2012	-	-	-	-	-	-	-	-	-	CSNB	-	GPR179	GPR179	1	1	SIB - Livia Famiglietti
00088177	NYS-002	PubMed: Thomas 2017, Journal: Thomas 2017	2-generation family, 5 affected (5M), unaffected heterozygous carrier females	M	-	United Kingdom (Great Britain)	-	-	-	-	-	CSNB	BCVA - 0.48 LogMAR Rotary Nystagmus	-	CACNA1F	1	5	Mervyn Thomas
00088180	NYS-004	PubMed: Thomas 2017, Journal: Thomas 2017	2-generation family, 1 affected	M	-	United Kingdom (Great Britain)	-	-	-	-	-	CSNB	BCVA 0.30 Horizontal Jerk nystagmus	-	CACNA1F	1	1	Mervyn Thomas
00095957	61070	PubMed: Li 2017	-	M	yes	Pakistan	Pakistani	-	-	-	-	CSNB	-	SLC24A1	SLC24A1	1	1	James Hejtmancik
00100084	61130	PubMed: Li 2017	-	M	yes	Pakistan	Pakistani	-	-	-	-	CSNB	-	GNAT1	GNAT1	1	1	James Hejtmancik
00100090	61155	PubMed: Li 2017	-	F	yes	Pakistan	Pakistani	-	-	-	-	CSNB	-	GRM6	GRM6	1	1	James Hejtmancik
00100095	61170	PubMed: Li 2017	-	M	yes	Pakistan	Pakistani	-	-	-	-	CSNB	-	GRM6	GRM6	1	1	James Hejtmancik
00100096	61172	PubMed: Li 2017	-	M	yes	Pakistan	Pakistani	-	-	-	-	CSNB	-	GRM6	GRM6	1	1	James Hejtmancik
00155553	-	Sharon, submitted	-	M	yes	Israel	Arab-Muslim	-	-	-	-	CSNB	-	TRPM1	TRPM1	1	2	Dror Sharon
00155554	-	Sharon, submitted	-	M	no	Israel	Jewish	-	-	-	-	CSNB	-	TRPM1	TRPM1	1	1	Dror Sharon
00155555	-	Sharon, submitted	-	M	no	Israel	Jewish-Ashkenazi	-	-	-	-	CSNB	-	TRPM1	TRPM1	1	2	Dror Sharon
00155556	-	Sharon, submitted	-	M	no	Israel	Arab-Muslim	-	-	-	-	CSNB	-	TRPM1	TRPM1	1	3	Dror Sharon
00246569	FamA	PubMed: Zeitz 2019, Journal: Zeitz 2019	3-generation family, 1 affected (M), unaffected carrier females	M	-	-	-	-	-	-	-	CSNB	see paper; …	CACNA1F	CACNA1F	1	1	Christina Zeitz
00246570	FamB	PubMed: Zeitz 2019, Journal: Zeitz 2019	2-generation family, 1 affected (M), unaffected carrier female	M	-	-	-	-	-	-	-	CSNB	see paper; …	CACNA1F	CACNA1F	1	1	Christina Zeitz
00246571	FamC	PubMed: Zeitz 2019, Journal: Zeitz 2019	3-generation family, 2 affected (2M), unaffected carrier female	M	-	-	-	-	-	-	-	CSNB	see paper; …	CACNA1F	CACNA1F	1	2	Christina Zeitz
00246572	FamD	PubMed: Zeitz 2019, Journal: Zeitz 2019	2-generation family, 1 affected (M)	M	-	-	-	-	-	-	-	CSNB	see paper; …	CACNA1F	CACNA1F	1	1	Christina Zeitz
00246573	FamE	PubMed: Zeitz 2019, Journal: Zeitz 2019	2-generation family, 2 affected brothers	M	-	-	-	-	-	-	-	CSNB	see paper; …	CACNA1F	CACNA1F	1	2	Christina Zeitz
00246574	FamF	PubMed: Menke 2016	2-generation family, 1 affected (M)	M	-	-	-	-	-	-	-	CSNB	see paper; …	CACNA1F	CACNA1F	1	1	Christina Zeitz
00246575	FamG	PubMed: Menke 2016	2-generation family, 1 affected (M)	M	-	-	-	-	-	-	-	CSNB	see paper; …	CACNA1F	CACNA1F	1	1	Christina Zeitz
00246588	-	PubMed: Szabo 2007	4-generation family, 9 affected (3F, 9M)	F;M	no	Denmark	-	-	-	-	-	CSNB	see paper; ...	GNAT1	GNAT1	1	9	Johan den Dunnen
00246589	-	PubMed: Naeem 2012	5-generation family, 4 affected (F, 3M)	F;M	yes	Pakistan	-	-	-	-	-	CSNB	see paper; ...	GNAT1	GNAT1	1	4	Johan den Dunnen
00246590	-	PubMed: Carrigan 2016	-	M	-	Ireland	-	-	-	-	-	CSNB	see paper; ..., lifelong night-blindness, significant pigmentary disturbance, constriction of visual fields (retinitis pigmentosa)	GNAT1	GNAT1	1	1	Johan den Dunnen
00246591	FamA	PubMed: Zeitz 2013	2-generation family, 1 affected, unaffected heterozygous carrier father/relative	F	no	United States	-	-	-	-	-	CSNB	see paper; ...	LRIT3	LRIT3	2	1	Johan den Dunnen
00246592	FamB	PubMed: Zeitz 2013	2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	F	no	France	-	-	-	-	-	CSNB	see paper; ...	LRIT3	LRIT3	2	1	Johan den Dunnen
00246593	patient	PubMed: Zeitz 2015, Journal: Zeitz 2015	-	-	-	United States	-	-	-	-	-	CSNB	see paper; ...	LRIT3	LRIT3	1	1	Johan den Dunnen
00246594	-	PubMed: Gal 1994	multi-generation family	-	no	Denmark	-	-	-	-	-	CSNB	see paper; ...	PDE6B	PDE6B	1	1	Johan den Dunnen
00246595	family	PubMed: Manes 2014	3-generation family, 4 affected (F, 3M)	F;M	no	-	-	-	-	-	-	CSNB	see paper; ...	PDE6B	PDE6B	1	1	Johan den Dunnen
00246599	family	PubMed: Maw 1998	2-generation family, 2 affected brothers, unaffected heterozygous carrier parents	M	-	India	-	-	-	-	-	CSNB	see paper; ...	SAG	SAG	1	2	Johan den Dunnen
00246600	FamAPatII1	PubMed: Nakamura 2004	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	Japan	-	-	-	-	-	CSNB	see paper; ...	SAG	SAG	2	1	Johan den Dunnen
00246601	FamBPatII4	PubMed: Nakamura 2004	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	Japan	-	-	-	-	-	CSNB	see paper; ...	SAG	SAG	1	1	Johan den Dunnen
00246602	-	PubMed: Waheed 2012	5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	M	-	Pakistan	-	-	-	-	-	CSNB	hyperhomocysteinemia, dural sinus thrombosis, thrombocytopenia, systemic lupus erythematosus, see paper; ...	SAG	MTHFR, SAG	2	1	Johan den Dunnen
00246603	-	PubMed: Sergouniotis 2011	-	F	-	United Kingdom (Great Britain)	Asia, south	-	-	-	-	CSNB	see paper; ...	SAG	SAG	1	1	Johan den Dunnen
00246604	patient	PubMed: Fuchs 1995	-	-	-	Japan	-	-	-	-	-	CSNB	see paper; …	SAG	SAG	1	1	Johan den Dunnen
00246605	patient	PubMed: Fuchs 1995	-	-	-	Japan	-	-	-	-	-	CSNB	see paper; …	SAG	SAG	1	1	Johan den Dunnen
00246606	patient	PubMed: Fuchs 1995	-	-	-	Japan	-	-	-	-	-	CSNB	see paper; …	SAG	SAG	1	1	Johan den Dunnen
00246607	patient	PubMed: Fuchs 1995	-	-	-	Japan	-	-	-	-	-	CSNB	see paper; …	SAG	SAG	1	1	Johan den Dunnen
00246608	patient	PubMed: Fuchs 1995	-	-	-	Japan	-	-	-	-	-	CSNB	see paper; …	SAG	SAG	1	1	Johan den Dunnen
00246609	patient	PubMed: Fuchs 1995	-	-	-	Japan	-	-	-	-	-	CSNB	see paper; …	SAG	-	-	1	Johan den Dunnen
00246656	-	PubMed: Huang 2012	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	no	China	-	-	-	-	-	CSNB	see paper; ...	GRK1, SAG	SAG	5	1	Johan den Dunnen
00246657	-	PubMed: Fujinami 2011	2-generation family, 1 affected	F	-	Japan	-	-	-	-	-	CSNB	see paper; ...	GRK1, SAG	SAG	1	1	Johan den Dunnen
00246658	patient	PubMed: Saga 2004	-	-	-	Japan	-	-	-	-	-	CSNB	see paper; …	SAG	SAG	1	1	Johan den Dunnen
00246659	patient	PubMed: Saga 2004	-	-	-	Japan	-	-	-	-	-	CSNB	see paper; …	SAG	SAG	1	1	Johan den Dunnen
00246660	patient	PubMed: Saga 2004	-	-	-	Japan	-	-	-	-	-	CSNB	see paper; …	SAG	SAG	1	1	Johan den Dunnen
00246661	patient	PubMed: Saga 2004	-	-	-	Japan	-	-	-	-	-	CSNB	see paper; …	SAG	SAG	1	1	Johan den Dunnen
00246662	patient	PubMed: Saga 2004	-	-	-	Japan	-	-	-	-	-	CSNB	see paper; …	SAG	SAG	1	1	Johan den Dunnen
00246663	patient	PubMed: Saga 2004	-	-	-	Japan	-	-	-	-	-	CSNB	see paper; …	SAG	SAG	1	1	Johan den Dunnen
00246664	patient	PubMed: Saga 2004	-	-	-	Japan	-	-	-	-	-	CSNB	see paper; …	SAG	SAG	1	1	Johan den Dunnen
00246665	patient	PubMed: Saga 2004	-	-	-	Japan	-	-	-	-	-	CSNB	see paper; …	SAG	SAG	1	1	Johan den Dunnen
00246666	patient	PubMed: Saga 2004	-	-	-	Japan	-	-	-	-	-	CSNB	see paper; …	SAG	SAG	1	1	Johan den Dunnen
00246667	PatIII1/2/3	PubMed: Yoshii 1998	4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives	F;M	yes	Japan	-	-	-	-	-	CSNB	see paper; 1 patient with retinitis pigmentosa, 2 with Oguchi’s disease	SAG	SAG	1	3	Johan den Dunnen
00246668	patient	PubMed: Dryja 1993	-	M	no	United States	-	-	-	-	-	CSNB	see paper; ...	RHO	RHO	1	1	Johan den Dunnen
00246669	-	PubMed: Rao 1994	-	-	-	United States	-	-	-	-	-	CSNB	see paper; ...	RHO	RHO	1	1	Johan den Dunnen
00246670	FamTCD/BC	PubMed: al-Jandal 1999	4-generation family, 8 affected (2F, 6M)	F;M	no	Ireland	-	-	-	-	-	CSNB	see paper; ...	RHO	RHO	1	8	Johan den Dunnen
00246671	FamA	PubMed: Zeitz 2006	2-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives	M	-	Switzerland	-	-	-	-	-	CSNB	see paper; ...	CABP4	CABP4	1	2	Johan den Dunnen
00246672	FamB	PubMed: Zeitz 2006	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	no	Switzerland	-	-	-	-	-	CSNB	see paper; ...	CABP4	CABP4	2	1	Johan den Dunnen
00246673	FamPatII1/1	PubMed: Littink 2009	2-generation family, affected brother/sister, unaffected heterozygous carrier parents	F;M	-	Netherlands	-	-	-	-	-	CSNB	see paper; ...	CABP4	CABP4	1	2	Johan den Dunnen
00246676	FamB	PubMed: Khan 2013	generation family, 3 affected, unaffected heterozygous carrier parents/relatives	-	yes	Saudi Arabia	-	-	-	-	-	CSNB	see paper; …	CABP4	CABP4	1	3	Johan den Dunnen
00246677	FamC	PubMed: Khan 2013	generation family, 3 affected, unaffected heterozygous carrier parents/relatives	-	yes	Saudi Arabia	-	-	-	-	-	CSNB	see paper; …	CABP4	CABP4	1	3	Johan den Dunnen
00246678	FamD	PubMed: Khan 2013	generation family, 1 affected, unaffected heterozygous carrier parents/relatives	M	yes	Saudi Arabia	-	-	-	-	-	CSNB	see paper; …	CABP4	CABP4	1	1	Johan den Dunnen
00246679	-	PubMed: Zeitz 2015, Journal: Zeitz 2015	-	-	-	Germany	-	-	-	-	-	CSNB	see paper; ...	CABP4	CABP4	1	1	Johan den Dunnen
00328807	dog	PubMed: Aguirre 1998, PubMed: Veske 1999	Briard/Briard–Beagle dogs	F;M	-	-	-	-	-	-	-	CSNB	-	RPE65	RPE65	1	1	Johan den Dunnen
00358872	patient	PubMed: Dan 2016	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	no	China	-	-	-	-	-	CSNB	see paper; ..., Schubert-Bornschein congenital stationary night blindness	-	LRIT3	2	1	Johan den Dunnen
00379751	IR_GH_0095	-	-	M	-	Korea, South (Republic)	-	-	-	-	-	CSNB	HP:0030515, HP:0001123, HP:0000639, HP:0000662	-	CACNA1F	1	1	Jinu Han
00414793	-	-	-	M	-	India	Asia	>19y	-	yes	none	CSNB	-	NYX	NYX	1	1	Srilekha Sundar
00414834	-	-	-	M	-	India	Asia	>31y	-	yes	none	CSNB	-	NYX	NYX	1	1	Srilekha Sundar
00414839	-	-	3-generation family, maternal grandfather affected	M	no	India	Asia	>14y	-	yes	none	CSNB	-	NYX	NYX	3	1	Srilekha Sundar
00415045	-	-	3-generation family, affected mother and elder sibling	F	no	India	Asian	>13y	-	yes	none	CSNB	-	TRPM1	TRPM1	1	2	Srilekha Sundar
00415046	-	-	-	M	no	India	Asian	>56y	-	yes	none	CSNB	-	GNAT1	GNAT1	2	1	Srilekha Sundar
00415086	-	-	3 generation family, parents unaffected heterozygous carriers	F	yes	India	Asian	>18y	-	yes	none	CSNB	-	GRM6	GRM6	1	1	Srilekha Sundar
00415087	-	-	-	F	no	India	Asian	>05y	-	yes	none	CSNB	-	GRM6	GRM6	1	1	Srilekha Sundar
00415167	-	-	-	F	yes	India	Asian	>10y	-	yes	none	CSNB	CSNB	TRPM1	TRPM1	1	1	Srilekha Sundar
00415168	-	-	4 generation pedigree with one affected family member	F	-	India	Asian	>24y	-	yes	none	CSNB	CSNB	TRPM1	TRPM1	1	1	Srilekha Sundar
00415171	-	-	-	F	?	India	Asian	>34y	-	yes	none	CSNB	-	TRPM1	TRPM1	1	1	Srilekha Sundar
00415175	-	-	-	F	?	India	Asian	>16y	-	yes	none	CSNB	CSNB	TRPM1	TRPM1	1	1	Srilekha Sundar
00417829	Fam1PatII1	PubMed: Mihalich 2022	2-generation family, 1 affected, unaffected heterozygous carrier mother	M	-	Italy	-	-	-	-	-	CSNB	see paper; ..., night blindness, bilateral high myopia	CACNA1F	CACNA1F	1	1	Alessandra Mihalich
00435099	Fam_17_GRM6	-	Heterozygous carrier parents	M	no	India	Asian	>30y	-	Yes	-	CSNB	-	-	GRM6	1	1	Srilekha Sundar
00444224	Pat1	PubMed: Kim 2021	-	M	-	Korea	-	-	-	-	-	CSNB	see paper; ..., no strabismus, no nystagmus	-	CNGB1	2	1	Johan den Dunnen
00444225	Pat2	PubMed: Kim 2021	-	M	-	Korea	-	-	-	-	-	CSNB	see paper; ..., no strabismus, no nystagmus	-	GNAT1	1	1	Johan den Dunnen
00444226	Pat4;Pat60	PubMed: Kim 2021, PubMed: Moon 2021	-	M	-	Korea	-	-	-	-	-	CSNB	see paper; ..., no strabismus, 3-4 Hz pendualr left beating jerk bilateral symmetric nystagmus	-	NYX	1	1	Johan den Dunnen
00444227	Pat5	PubMed: Kim 2021	-	M	-	Korea	-	-	-	-	-	CSNB	see paper; ..., strabismus, no nystagmus	-	NYX	1	1	Johan den Dunnen
00444228	Pat6;Pat4	PubMed: Kim 2021, PubMed: Moon 2021	-	M	-	Korea	-	-	-	-	-	CSNB	see paper; ..., no strabismus, gaze evoked nystagmus	-	CACNA1F	1	1	Johan den Dunnen
00444229	Pat7	PubMed: Kim 2021	-	M	-	Korea	-	-	-	-	-	CSNB	see paper; ..., strabismus, 3-4 Hz /right/left beating jerk bilateral symmetric nystagmus	-	CACNA1F	1	1	Johan den Dunnen
00444230	Pat8;Pat5	PubMed: Kim 2021, PubMed: Moon 2021	-	M	-	Korea	-	-	-	-	-	CSNB	see paper; ..., strabismus, 5 Hz small amplitude pendular nystagmus	-	CACNA1F	1	1	Johan den Dunnen
00444231	Pat9;Pat6	PubMed: Kim 2021, PubMed: Moon 2021	-	M	-	Korea	-	-	-	-	-	CSNB	see paper; ..., no strabismus, 4 Hz fine amplitude pendular nystagmus	-	CACNA1F, LRP5	2	1	Johan den Dunnen
00444232	Pat10	PubMed: Kim 2021	-	M	-	Korea	-	-	-	-	-	CSNB	see paper; ..., strabismus, no nystagmus	-	CACNA1F	1	1	Johan den Dunnen
00444233	Pat11	PubMed: Kim 2021	-	M	-	Korea	-	-	-	-	-	CSNB	see paper; ..., no strabismus, 3-4 Hz left beating jerk bilateral symmetric nystagmus	-	CACNA1F	1	1	Johan den Dunnen
00444234	Pat12	PubMed: Kim 2021	-	M	-	Korea	-	-	-	-	-	CSNB	see paper; ..., strabismus, no nystagmus	-	CACNA1F	1	1	Johan den Dunnen
00444235	Pat13	PubMed: Kim 2021	-	M	-	Korea	-	-	-	-	-	CSNB	see paper; ..., no strabismus, gaze evoked nystagmus	-	CACNA1F	1	1	Johan den Dunnen
00444236	Pat14	PubMed: Kim 2021	-	M	-	Korea	-	-	-	-	-	CSNB	see paper; ..., strabismus, 3 Hz upbeat jerk bilateral symmetric nystagmus	-	CACNA1F	1	1	Johan den Dunnen
00444237	Pat16	PubMed: Kim 2021	-	M	-	Korea	-	-	-	-	-	CSNB	see paper; ..., no strabismus, gaze evoked nystagmus	-	CACNA1F	1	1	Johan den Dunnen
00444238	Pat17	PubMed: Kim 2021	-	M	-	Korea	-	-	-	-	-	CSNB	see paper; ..., no strabismus, no nystagmus	-	CACNA1F	1	1	Johan den Dunnen

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Global Variome shared LOVD

RHCE (Rh blood group, CcEe antigens)