All individuals with variants in gene GJA8

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.

116 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	Variants	Panel size	Owner
00050448	-	PubMed: DDDS 2015, Journal: DDDS 2015	family, 1 affected	F	-	United Kingdom (Great Britain)	-	-	-	Decipher	-	?	abnormality of the eye, bilateral microphthalmos, microphthalmos, bilateral microphthalmos, congenital cataract, anterior segment dysgenesis, hypoplasia of the iris, persistent pupillary membrane	1	1	Johan den Dunnen
00050487	-	PubMed: DDDS 2015, Journal: DDDS 2015	family, 1 affected	F	-	United Kingdom (Great Britain)	-	-	-	Decipher	-	?	global developmental delay, microcephaly, seizures	1	1	Johan den Dunnen
00050570	-	PubMed: DDDS 2015, Journal: DDDS 2015	family, affected father/child	F	-	United Kingdom (Great Britain)	-	-	-	Decipher	-	?	brachycephaly, gastroesophageal reflux, delayed speech and language development, global developmental delay	1	2	Johan den Dunnen
00060062	-	-	1 familie, 3 patients	M	-	China	Han	-	-	-	-	CTRCT	cataract, congenital	1	1	Juhua Yang
00060073	-	-	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CTRCT1	-	1	1	Johan den Dunnen
00060074	-	-	-	-	-	Pakistan	-	-	-	-	-	CTRCT1	-	1	1	Johan den Dunnen
00060075	-	-	-	-	-	Russian Federation	-	-	-	-	-	CTRCT1	-	1	1	Johan den Dunnen
00060076	-	-	-	-	-	Iran	-	-	-	-	-	CTRCT	-	1	1	Johan den Dunnen
00060077	-	-	-	-	-	India	-	-	-	-	-	CTRCT1	-	1	1	Johan den Dunnen
00060078	-	-	-	-	-	-	-	-	-	-	-	CTRCT1	-	1	1	Johan den Dunnen
00060079	-	-	-	-	-	China	-	-	-	-	-	CTRCT1	-	1	1	Johan den Dunnen
00060085	CC00145	PubMed: Hansen 2009	4-generation family, 14 affected (8F, 6M)	F;M	-	Denmark	-	-	-	-	-	CTRCT	-	1	14	Johan den Dunnen
00060092	CC00110	PubMed: Hansen 2009	2-generation family, affected mother/son	F;M	-	Denmark	-	-	-	-	-	CTRCT	-	1	2	Johan den Dunnen
00060094	-	-	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00060205	Fam1PatII1	PubMed: Prokudin 2014	3-generation family, 4 affected (mother/3 sons)	F	-	Australia	-	-	-	-	-	CTRCT	see paper; ..., nuclear cataracts, microcornea	1	4	Ivan Prokudin
00060210	-	-	-	M	no	China	-	-	-	-	-	CTRCT	cataract, congenital	1	1	Juhua Yang
00065032	-	PubMed: Gillespie 2014, Journal: Gillespie 2014	no family history	M	yes	-	-	-	-	-	-	CCTRCT	nuclear, lamellar cataract, posterior capsule opacity	1	1	Johan den Dunnen
00065034	-	PubMed: Gillespie 2014, Journal: Gillespie 2014	has affected mother and maternal grandfather	F	no	-	-	-	-	-	-	CCTRCT	total cataract; amblyopia, convergent squint, all other measurements within normal range	1	3	Johan den Dunnen
00102742	-	-	-	F	no	China	Chinese	-	-	-	-	CTRCT	-	1	1	Zongfu Cao
00102748	-	-	-	F	no	China	-	-	-	-	-	CTRCT	-	1	1	Zongfu Cao
00363787	G462	PubMed: Huang 2015	family	M	-	China	-	-	-	-	-	glaucoma	see paper; ...	1	1	LOVD
00382149	288	PubMed: Patel 2019	-	?	-	United Kingdom (Great Britain)	-	-	-	-	-	MCOPS9	congenital cataract; MIM, 600897	1	1	LOVD
00384435	14525	PubMed: Wang 2019	-	F	-	China	-	-	-	-	-	CTRCT1	-	1	1	LOVD
00385452	11012212	PubMed: Lenassi 2020	retrospective analysis	F	-	(United Kingdom (Great Britain))	-	-	-	-	-	retinal disease	-	1	1	LOVD
00385477	15018151	PubMed: Lenassi 2020	retrospective analysis	F	-	(United Kingdom (Great Britain))	-	-	-	-	-	retinal disease	-	1	1	LOVD
00392276	34	PubMed: Bell 2021	-	F	no	(United Kingdom (Great Britain))	-	-	-	-	-	retinal disease	congenital cataract	1	1	LOVD
00414370	WHP37	PubMed: Sun 2018	-	M	-	China	-	-	-	-	-	?	-	1	1	LOVD
00414385	WHP52	PubMed: Sun 2018	-	M	-	China	-	-	-	-	-	?	-	1	1	LOVD
00414406	WHP73	PubMed: Sun 2018	-	M	-	China	-	-	-	-	-	?	-	1	1	LOVD
00414422	WHP89	PubMed: Sun 2018	-	F	-	China	-	-	-	-	-	?	-	1	1	LOVD
00434106	CCMC0103	PubMed: Hansen 2009	family	-	-	Denmark	-	-	-	-	-	CTRCT	-	1	1	Johan den Dunnen
00434116	CC00159	PubMed: Cao 2018	-	-	-	Denmark	-	-	-	-	-	CTRCT	-	1	1	Johan den Dunnen
00434120	controls	PubMed: Cao 2018	-	-	-	Denmark	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00434129	Fam1PatII1	PubMed: Li 2019	2-generation family, affected mother/son	M	-	China	-	-	-	-	-	CTRCT	see paper; ..., nuclear cataract, white opacities	1	2	Johan den Dunnen
00434130	Fam2PatII1	PubMed: Li 2019	2-generation family, affected mother/2 daughters	F	-	China	-	-	-	-	-	CTRCT	see paper; ..., nuclear/lamellar cataract, blue punctate opacities	1	3	Johan den Dunnen
00434167	Fam12	PubMed: Fernandez-Alcalde 2021	-	-	-	Spain	-	-	-	-	-	CTRCT	nuclear cataract; no microphthalmia; microcornea; no iris malformations	1	1	Johan den Dunnen
00434168	Fam13	PubMed: Fernandez-Alcalde 2021	-	-	-	Spain	-	-	-	-	-	CTRCT	lamellar cataract; no microphthalmia; no microcornea; no iris malformations	1	1	Johan den Dunnen
00434169	Fam14	PubMed: Fernandez-Alcalde 2021	-	-	-	Spain	-	-	-	-	-	CTRCT	nuclear cataract; no microphthalmia; no microcornea; no iris malformations	1	1	Johan den Dunnen
00434170	Fam15	PubMed: Fernandez-Alcalde 2021	-	-	-	Spain	-	-	-	-	-	CTRCT	posterior polar cataract; no microphthalmia; microcornea; no iris malformations	1	1	Johan den Dunnen
00434171	Fam16	PubMed: Fernandez-Alcalde 2021	-	-	-	Spain	-	-	-	-	-	CTRCT	nuclear cataract; microphthalmia; no microcornea; no iris malformations	1	1	Johan den Dunnen
00434186	WCC2PatIII2	PubMed: Zhang 2018	4-generation family, 6 affected (4F, 2M)	F	-	China	-	-	-	-	-	CTRCT	nuclear opacity	1	6	Johan den Dunnen
00434187	WCC11PatII1	PubMed: Zhang 2018	2-generation family, 1 affected	M	-	China	-	-	-	-	-	CTRCT	nuclear opacity	1	1	Johan den Dunnen
00434232	Fam26334	PubMed: Jackson 2020	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	?	-	1	1	Johan den Dunnen
00434287	Fam26333	PubMed: Jackson 2020	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00441796	Pat1	PubMed: Amine 2023	3-generation family, several affected (sister, father, paternal family members)	F	-	United States	-	-	-	-	-	CTRCT	see paper; ..., bilateral congenital cataracts	1	3	Johan den Dunnen
00441802	CRCH20	PubMed: Javadiyan 2017	4-generation family, 5 affected (3F, 2M)	F;M	-	Australia	-	-	-	-	-	CTRCT	see paper; ...	1	5	Johan den Dunnen
00441803	CSA125	PubMed: Javadiyan 2017	2-generation family, affected father/daughter	F;M	-	Australia	-	-	-	-	-	CTRCT	see paper; ...	1	2	Johan den Dunnen
00441804	CSA162	PubMed: Javadiyan 2017	3-generation family, affected grandmother/mother/daughter	F	-	Australia	-	-	-	-	-	CTRCT	see paper; ...	1	3	Johan den Dunnen
00444113	Fam5PatIII2	PubMed: Astiazaran 2018	3-generation family, 9 affected (5F, 4M)	F	-	Mexico	-	-	-	-	-	CTRCT	bilateral cataract	1	9	Johan den Dunnen
00444114	Fam5PatII2	PubMed: Astiazaran 2018	mother	F	-	Mexico	-	-	-	-	-	CTRCT	bilateral cataract	1	1	Johan den Dunnen
00444869	Fam9	PubMed: Fan 2020	2-generation family, affected father/sib	-	-	China	-	-	-	-	-	CTRCT	binocular, microphthalmia	1	2	Johan den Dunnen
00444885	Fam1PatII1	PubMed: Ma 2016	2-generation family, affected bother/sister, mother sutural cataract	M	-	Australia	-	-	-	-	-	CTRCT	see paper; ..., bilateral cataract, 30y-aphakic glaucoma, retinal detachment; sister less severely affected bilateral cataracts; mother sutural cataract	1	2	Johan den Dunnen
00444886	Fam2PatII1	PubMed: Ma 2016	2-generation family, 1 affected, unaffected parents	F	-	Australia	-	-	-	-	-	CTRCT	see paper; ..., bilateral dense cataract with anterior polar component, aphakic glaucoma, nystagmus visual acuity R 6/30 L 6/60	1	1	Johan den Dunnen
00444897	Fam14PatII2	PubMed: Ma 2016	2-generation family, 1 affected	F	yes	Australia	-	-	-	-	-	CTRCT	see paper; ..., bilateral cataract, 17y-severe glaucoma, visual acuity R 6/15 L unobtainable; mother nuclear dot cataracts, early L posterior subcapsular cataract, HCD 10.5mm	1	2	Johan den Dunnen
00444903	Fam20PatII2	PubMed: Ma 2016	2-generation family, 1 affected, unaffected parents	F	-	Australia	-	-	-	-	-	CTRCT	see paper; ..., bilateral anterior cortical/nuclear cataract, 6m-visual acuity R 6/280 L 6/120, latent nystagmus	1	1	Johan den Dunnen
00444928	Fam45PatII1	PubMed: Ma 2016	2-generation family, 1 affected, unaffected parents	M	-	Australia	-	-	-	-	-	CTRCT	see paper; ..., bilateral cataract, bilateral microphthalmia/ sclerocornea	1	1	Johan den Dunnen
00444958	11DG1761	PubMed: Patel 2017	family	-	-	-	-	-	-	-	-	CTRCT	pediatric cataract; not syndromic	1	6	Johan den Dunnen
00444988	Pat2	PubMed: Reis 2013	family, 6 affected	-	-	United States	white	-	-	-	-	CTRCT	congenital cataract; microcornea, glaucoma	1	1	Johan den Dunnen
00444989	Pat3	PubMed: Reis 2013	family, 2 affected	-	-	United States	white	-	-	-	-	CTRCT	congenital cataract; glaucoma	1	1	Johan den Dunnen
00444997	Pat11	PubMed: Reis 2013	family, 3 affected	-	-	United States	white	-	-	-	-	CTRCT	congenital cataract; pupil defects, glaucoma	1	1	Johan den Dunnen
00445044	CC0000744	PubMed: Kessel 2021	patient	-	-	Denmark	-	-	-	-	-	CTRCT	bilateral cataract	1	1	Johan den Dunnen
00445089	Fam9PatI2	PubMed: Reichsteiner 2021	2-generation family, affected mother/daughter	F	-	Switzerland	-	-	-	-	-	CTRCT	cataract; non-syndromic	1	2	Johan den Dunnen
00445090	Fam9PatII1	PubMed: Reichsteiner 2021	daughter	F	-	Switzerland	-	-	-	-	-	CTRCT	pulverulent cataract (restricted to nucleus); non-syndromic; no aphakic glaucoma	1	1	Johan den Dunnen
00445091	Fam10PatII1	PubMed: Reichsteiner 2021	2-generation family, 1 affected, unaffected non-carrier mother	F	-	Switzerland	-	-	-	-	-	CTRCT	cataract; microcornea left eye ; non-syndromic; no aphakic glaucoma	1	1	Johan den Dunnen
00446381	Fam5	PubMed: Khidiyatova 2023	patient	-	-	Russia	-	-	-	-	-	CTRCT	see paper; ..., punctate cataract	1	1	Johan den Dunnen
00446382	Fam5	PubMed: Khidiyatova 2023	patient	-	-	Russia	-	-	-	-	-	CTRCT	see paper; ..., nuclear cataract	1	1	Johan den Dunnen
00446383	Fam6	PubMed: Khidiyatova 2023	patient	-	-	Russia	Bashkir	-	-	-	-	CTRCT	see paper; ..., anterior polar cataract	1	1	Johan den Dunnen
00446384	Fam7	PubMed: Khidiyatova 2023	patient	-	-	Russia	-	-	-	-	-	CTRCT	see paper; ..., zonular cataract, microphthalmos, microcornea	1	1	Johan den Dunnen
00446385	Fam8	PubMed: Khidiyatova 2023	patient	-	-	Russia	-	-	-	-	-	CTRCT	see paper; ..., zonular cataract	2	1	Johan den Dunnen
00446411	Fam1Pat1	PubMed: Liu 2023	-	M	-	China	-	-	-	-	-	CTRCT	bilateral congenital cataract	1	1	Johan den Dunnen
00446435	Fam18Pat51	PubMed: Liu 2023	2-generation family, affected father/daughter	F	-	China	-	-	-	-	-	CTRCT	bilateral congenital cataract	1	2	Johan den Dunnen
00446436	Fam18Pat53	PubMed: Liu 2023	father	M	-	China	-	-	-	-	-	CTRCT	bilateral congenital cataract	1	1	Johan den Dunnen
00446455	Fam47Pat127	PubMed: Liu 2023	family, 3 affected	M	-	China	-	-	-	-	-	CTRCT	bilateral congenital cataract	2	3	Johan den Dunnen
00446456	Fam49Pat133	PubMed: Liu 2023	2-generation family, affected father/daughter	F	-	China	-	-	-	-	-	CTRCT	bilateral congenital cataract	1	2	Johan den Dunnen
00446457	Fam49Pat134	PubMed: Liu 2023	father	M	-	China	-	-	-	-	-	CTRCT	bilateral congenital cataract	1	1	Johan den Dunnen
00446465	Fam59Pat163	PubMed: Liu 2023	-	F	-	China	-	-	-	-	-	CTRCT	bilateral congenital cataract	1	1	Johan den Dunnen
00446517	Fam119Pat320	PubMed: Liu 2023	3-generation family, 4 affected (F, 3M)	F	-	China	-	-	-	-	-	CTRCT	bilateral congenital cataract	1	4	Johan den Dunnen
00446518	Fam119Pat321	PubMed: Liu 2023	grandson	M	-	China	-	-	-	-	-	CTRCT	bilateral congenital cataract	1	1	Johan den Dunnen
00446537	Fam137Pat365	PubMed: Liu 2023	2-generation family, affected father/daughter	F	-	China	-	-	-	-	-	CTRCT	bilateral congenital cataract	1	2	Johan den Dunnen
00446538	Fam137Pat367	PubMed: Liu 2023	father	M	-	China	-	-	-	-	-	CTRCT	bilateral congenital cataract	1	1	Johan den Dunnen
00446587	family	PubMed: Senthil Kumar 2016	3-generation family, 3 affected (3F), unaffected	F	-	India	India-S	-	-	-	-	CTRCT	see paper; ..., posterior cortical cataract left, mature cortical cataract right	1	3	Johan den Dunnen
00446603	FamB	PubMed: Mackay 2014	2-generation family, affected father/3daughters	F;M	-	United States	white	-	-	-	-	CTRCT	-	1	4	Johan den Dunnen
00446604	FamC	PubMed: Mackay 2014	2-generation family, affected father/daughter	F;M	-	United States	white	-	-	-	-	CTRCT	-	1	2	Johan den Dunnen
00468317	Fam26Pat7811	PubMed: Guo 2025	patient, no family history	F	-	China	-	-	-	-	-	CTRCT	see paper; ..., cataract; microcornea; microphthalmia; nystagmus; 6.0y-surgery	1	1	Johan den Dunnen
00468318	Fam27Pat18206	PubMed: Guo 2025	family, several affected	F	-	China	-	-	-	-	-	CTRCT	see paper; ..., cataract; microcornea; nystagmus; high myopia; 7.0y-surgery	1	2	Johan den Dunnen
00468319	Fam28Pat19713	PubMed: Guo 2025	patient, no family history	F	-	China	-	-	-	-	-	CTRCT	see paper; ..., cataract; microcornea; nystagmus; 0.3y-surgery	1	1	Johan den Dunnen
00468320	Fam29Pat9736	PubMed: Guo 2025	family, several affected	F	-	China	-	-	-	-	-	CTRCT	see paper; ..., nuclear cataract; microcornea; nystagmus; high myopia; 0.4y-surgery	1	2	Johan den Dunnen
00468321	Fam30Pat41082	PubMed: Guo 2025	family, several affected	F	-	China	-	-	-	-	-	CTRCT	see paper; ..., total cataract; microcornea; nystagmus; no surgery	1	2	Johan den Dunnen
00468322	Fam31Pat5782	PubMed: Guo 2025	patient, no family history	M	-	China	-	-	-	-	-	CTRCT	see paper; ..., cataract; microcornea; microphthalmia; nystagmus; no surgery	1	1	Johan den Dunnen
00468323	Fam32Pat22328	PubMed: Guo 2025	family, several affected	F	-	China	-	-	-	-	-	CTRCT	see paper; ..., cataract; no surgery	1	2	Johan den Dunnen
00468324	Fam33Pat27261	PubMed: Guo 2025	patient, no family history	M	-	China	-	-	-	-	-	CTRCT	see paper; ..., cataract; postoperative retinal detachment, glaucoma; microcornea; nystagmus; high myopia; 1y-surgery	1	1	Johan den Dunnen
00468353	Fam54Pat15993	PubMed: Guo 2025	family, several affected	F	-	China	-	-	-	-	-	CTRCT	see paper; ..., cataract; nystagmus; high myopia; 3.0y-surgery	1	2	Johan den Dunnen
00468354	Fam54Pat17474	PubMed: Guo 2025	relative	F	-	China	-	-	-	-	-	CTRCT	see paper; ..., nuclear cataract; 1.0y-surgery	1	1	Johan den Dunnen
00468358	Fam57Pat6204	PubMed: Guo 2025	family, several affected	F	-	China	-	-	-	-	-	CTRCT	see paper; ..., cataract; microphthalmia; nystagmus; 1.0y-surgery	1	2	Johan den Dunnen
00468359	Fam57Pat6205	PubMed: Guo 2025	relative	F	-	China	-	-	-	-	-	CTRCT	see paper; ..., cataract; microphthalmia; nystagmus; 1.0y-surgery	1	1	Johan den Dunnen
00468364	Fam60Pat16016	PubMed: Guo 2025	relative	M	-	China	-	-	-	-	-	CTRCT	see paper; ..., cataract; microcornea; microphthalmia; nystagmus; 1.2y-surgery	1	1	Johan den Dunnen
00468365	Fam60Pat16017	PubMed: Guo 2025	family, several affected	M	-	China	-	-	-	-	-	CTRCT	see paper; ..., cataract; microcornea; microphthalmia; nystagmus;	1	1	Johan den Dunnen
00468375	Fam67Pat19984	PubMed: Guo 2025	family, several affected	F	-	China	-	-	-	-	-	CTRCT	see paper; ..., cataract; nystagmus; no surgery	1	2	Johan den Dunnen
00468376	Fam67Pat19986	PubMed: Guo 2025	relative	F	-	China	-	-	-	-	-	CTRCT	see paper; ..., cataract; nystagmus; 26.0y-surgery	1	1	Johan den Dunnen
00468382	Fam71Pat22910	PubMed: Guo 2025	family, several affected	M	-	China	-	-	-	-	-	CTRCT	see paper; ..., cataract; nystagmus; no surgery	1	2	Johan den Dunnen

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Global Variome shared LOVD

GJA8 (gap junction protein, alpha 8, 50kDa)