Disease #01814 (GLC3A (glaucoma, congenital, primary, type 3A (GLC-3A)), OMIM:231300)

Official abbreviation	GLC3A
Name	glaucoma, congenital, primary, type 3A (GLC-3A)
OMIM ID	231300
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	45
Phenotype entries for this disease	45
Associated with 1 gene	CYP1B1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

Individuals

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

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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'
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!=""	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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45 entries on 1 page. Showing entries 1 - 45.

Legend

How to query

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
00051837	-	PubMed: Stoilov 1998	2-generation family, 2 affected brothers, unaffected heterozygous carrier parents/3 sibs	M	no	Turkey	-	-	-	-	-	GLC3A	early onset (0–3y) aggressive glaucoma, increased IOP, corneal edema, excessive tearing, photophobia, buphthalmos, cloudy cornea	CYP1B1	CYP1B1	2	2	Johan den Dunnen
00051838	-	PubMed: Stoilov 1998	2-generation family, 2 affecteds (F, M), unaffected heterozygous carrier parents/brother	-	no	Turkey	-	-	-	-	-	GLC3A	early onset (0–3y) aggressive glaucoma, increased IOP, corneal edema, excessive tearing, photophobia, buphthalmos, cloudy cornea	CYP1B1	CYP1B1	1	2	Johan den Dunnen
00051839	-	PubMed: Stoilov 1998	2-generation family, 2 sisters, unaffected heterozygous carrier parents	F	yes	Turkey	-	-	-	-	-	GLC3A	early onset (0–3y) aggressive glaucoma, increased IOP, corneal edema, excessive tearing, photophobia, buphthalmos, cloudy cornea	CYP1B1	CYP1B1	2	2	Johan den Dunnen
00051841	-	PubMed: Stoilov 1998	2-generation family, 1 affected, unaffected heterozygous carrier parents/2 sibs	M	yes	Canada	French Canadian	-	-	-	-	GLC3A	early onset (0–3y) aggressive glaucoma, increased IOP, corneal edema, excessive tearing, photophobia, buphthalmos, cloudy cornea	CYP1B1	CYP1B1	1	1	Johan den Dunnen
00051842	-	PubMed: Stoilov 1998	2-generation family, 1 affected, unaffected heterozygous carrier parents/brother	F	no	United Kingdom (Great Britain)	-	-	-	-	-	GLC3A	early onset (0–3y) aggressive glaucoma, increased IOP, corneal edema, excessive tearing, photophobia, buphthalmos, cloudy cornea	CYP1B1	CYP1B1	2	1	Johan den Dunnen
00051843	-	PubMed: Stoilov 1998	2-generation family, 2 affected sisters, unaffected heterozygous carrier parents/sister	F	no	Turkey	-	-	-	-	-	GLC3A	early onset (0–3y) aggressive glaucoma, increased IOP, corneal edema, excessive tearing, photophobia, buphthalmos, cloudy cornea	CYP1B1	CYP1B1	1	2	Johan den Dunnen
00051844	-	PubMed: Stoilov 1998	2-generation family, 2 affecteds, unaffected heterozygous carrier parents	F	no	United States	Hispanic	-	-	-	-	GLC3A	early onset (0–3y) aggressive glaucoma, increased IOP, corneal edema, excessive tearing, photophobia, buphthalmos, cloudy cornea	CYP1B1	CYP1B1	2	2	Johan den Dunnen
00051846	-	PubMed: Stoilov 1998	2-generation family, affected brother/sister, unaffected heterozygous carrier mother, father non-carrier	-	no	United States	-	-	-	-	-	GLC3A	early onset (0–3y) aggressive glaucoma, increased IOP, corneal edema, excessive tearing, photophobia, buphthalmos, cloudy cornea	CYP1B1	CYP1B1	1	2	Johan den Dunnen
00051871	-	PubMed: Stoilov 1998	2-generation family, 1 affected, unaffected heterozygous carrier parents/brother	M	no	United States	Hispanic	-	-	-	-	GLC3A	early onset (0–3y) aggressive glaucoma, increased IOP, corneal edema, excessive tearing, photophobia, buphthalmos, cloudy cornea	CYP1B1	CYP1B1	2	1	Johan den Dunnen
00051875	-	PubMed: Stoilov 1998	2-generation family, 3 affecteds (2F, M), unaffected heterozygous carrier parents	-	no	Turkey	-	-	-	-	-	GLC3A	early onset (0–3y) aggressive glaucoma, increased IOP, corneal edema, excessive tearing, photophobia, buphthalmos, cloudy cornea	CYP1B1	CYP1B1	1	3	Johan den Dunnen
00081683	-	PubMed: Rauf 2016, Journal: Rauf 2016	family, 5 affecteds, individual 6	F	-	Pakistan	-	-	-	-	-	GLC3A	increased intraocular pressure (HP:0007906) OD/OS 52/44, cup to disc ratio no view/no view, visual acuity no light perception/light perception, increased corneal diameter (HP:0000485), corneal edema (HP:0012040), corneal haze, spheroidal degeneration (HP:0007705)	CYP1B1	CYP1B1	1	1	Johan den Dunnen
00081684	-	PubMed: Rauf 2016, Journal: Rauf 2016	family, 4 affecteds	M	-	Pakistan	-	-	-	-	IOP controlled through surgery and medical treatment	GLC3A	increased intraocular pressure (HP:0007906) OD/OS 16/16; cup to disc ratio 0.6/0.4; visual acuity light perception/light perception; increased corneal diameter (HP:0000485); bilateral buphthalmos (HP:0000557); bilateral myopic fundus	CYP1B1	CYP1B1	1	4	Johan den Dunnen
00081685	-	PubMed: Rauf 2016, Journal: Rauf 2016	family, 6 affecteds	-	-	Pakistan	-	-	-	-	-	GLC3A	-	CYP1B1	CYP1B1	1	6	Johan den Dunnen
00081686	-	PubMed: Rauf 2016, Journal: Rauf 2016	family, 2 affecteds	F	-	Pakistan	-	-	-	-	-	GLC3A	increased intraocular pressure (HP:0007906) OD/OS 40/32; cup to disc ratio 0.7/0.4; visual acuity light perception/hand movement; increased corneal diameter (HP:0000485); bilateral buphthalmos (HP:0000557); corneal opacity (HP:0007957)	CYP1B1	CYP1B1	1	2	Johan den Dunnen
00081687	-	PubMed: Rauf 2016, Journal: Rauf 2016	family, 2 affecteds	M	-	Pakistan	-	-	-	-	IOP controlled through surgery and medical treatment	GLC3A	increased intraocular pressure (HP:0007906) OD/OS 26/20; cup to disc ratio no view/no view; visual acuity hand movement/hand movement; corneal diameter lateral >14mm; bilateral corneal opacity (HP:0007957); vascularization	CYP1B1	CYP1B1	1	2	Johan den Dunnen
00081688	-	PubMed: Rauf 2016, Journal: Rauf 2016	family, 5 affecteds	M	-	Pakistan	-	-	-	-	-	GLC3A	visual acuity light perception/light perception; ; corneal opacity (HP:0007957)	CYP1B1	CYP1B1	1	5	Johan den Dunnen
00081689	-	PubMed: Rauf 2016, Journal: Rauf 2016	family, 4 affecteds	F	-	Pakistan	-	-	-	-	-	GLC3A	increased intraocular pressure (HP:0007906) OD/OS 44/30; cup to disc ratio 0.8/no view; visual acuity light perception/light perception; increased corneal diameter (HP:0000485); bilateral buphthalmos (HP:0000557); bilateral megalocornea (HP:0000485)	CYP1B1	CYP1B1	2	4	Johan den Dunnen
00081690	-	PubMed: Rauf 2016, Journal: Rauf 2016	family, 3 affecteds	-	-	Pakistan	-	-	-	-	-	GLC3A	-	CYP1B1	CYP1B1	1	3	Johan den Dunnen
00081691	-	PubMed: Rauf 2016, Journal: Rauf 2016	family, 1 affecteds	M	-	Pakistan	-	-	-	-	-	GLC3A	increased intraocular pressure (HP:0007906) OD/OS 30/26; cup to disc ratio 0.8/0.6; visual acuity light perception/light perception; increased corneal diameter (HP:0000485); bilateral buphthalmos (HP:0000557); bilateral corneal opacity (HP:0007957)	CYP1B1	CYP1B1	1	1	Johan den Dunnen
00081692	-	PubMed: Rauf 2016, Journal: Rauf 2016	family, 1 affecteds	-	-	Pakistan	-	-	-	-	-	GLC3A	-	CYP1B1	CYP1B1	1	1	Johan den Dunnen
00081693	-	PubMed: Rauf 2016, Journal: Rauf 2016	family, 2 affecteds	-	-	Pakistan	-	-	-	-	-	GLC3A	-	CYP1B1	CYP1B1	1	2	Johan den Dunnen
00081694	-	PubMed: Rauf 2016, Journal: Rauf 2016	family, 4 affecteds	M	-	Pakistan	-	-	-	-	-	GLC3A	increased intraocular pressure (HP:0007906) OD/OS ?/38; visual acuity light perception/light perception; increased corneal diameter (HP:0000485); bilateral buphthalmos (HP:0000557); megalocornea (HP:0000485)	CYP1B1	CYP1B1	1	4	Johan den Dunnen
00081695	-	PubMed: Rauf 2016, Journal: Rauf 2016	family, 6 affecteds	F	-	Pakistan	-	-	-	-	IOP controlled through surgery and medical treatment	GLC3A	increased intraocular pressure (HP:0007906) OD/OS 22/20; cup to disc ratio no view/no view; visual acuity light perception/light perception; corneal diameter 13.0/14.0; bilateral buphthalmos (HP:0000557); bilateral corneal opacity (HP:0007957)	CYP1B1	CYP1B1	1	6	Johan den Dunnen
00081696	-	PubMed: Rauf 2016, Journal: Rauf 2016	family, 3 affecteds	-	-	Pakistan	-	-	-	-	-	GLC3A	-	CYP1B1	CYP1B1	1	3	Johan den Dunnen
00081697	-	PubMed: Rauf 2016, Journal: Rauf 2016	family, 7 affecteds	F	-	Pakistan	-	-	-	-	-	GLC3A	increased intraocular pressure (HP:0007906) OD/OS 28/28; cup to disc ratio 1.0/1.0; visual acuity /36/4/12; increased corneal diameter (HP:0000485); bilateral buphthalmos (HP:0000557); bilateral megalocornea (HP:0000485)	CYP1B1	CYP1B1	1	7	Johan den Dunnen
00081698	-	PubMed: Rauf 2016, Journal: Rauf 2016	family, 3 affecteds	-	-	Pakistan	-	-	-	-	-	GLC3A	-	CYP1B1	CYP1B1	1	3	Johan den Dunnen
00081699	-	PubMed: Rauf 2016, Journal: Rauf 2016	family, 3 affecteds	-	-	Pakistan	-	-	-	-	-	GLC3A	-	CYP1B1	CYP1B1	1	3	Johan den Dunnen
00081700	-	PubMed: Rauf 2016, Journal: Rauf 2016	family, 4 affecteds	M	-	Pakistan	-	-	-	-	IOP controlled through surgery and medical treatment	GLC3A	increased intraocular pressure (HP:0007906) OD/OS 19/22; cup to disc ratio 0.9/0.9; visual acuity counting fingers/counting fingers; increased corneal diameter (HP:0000485); bilateral buphthalmos (HP:0000557)	CYP1B1	CYP1B1	1	4	Johan den Dunnen
00081701	-	PubMed: Rauf 2016, Journal: Rauf 2016	family, 3 affecteds	F	-	Pakistan	-	-	-	-	-	GLC3A	increased intraocular pressure (HP:0007906) OD/OS 38/?; cup to disc ratio no view/no view; visual acuity hand movement/no light perception; increased corneal diameter (HP:0000485); right buphthalmos (HP:0000557); left phthisical eye	CYP1B1	CYP1B1	2	3	Johan den Dunnen
00081702	-	PubMed: Rauf 2016, Journal: Rauf 2016	family, 5 affecteds	M	-	Pakistan	-	-	-	-	-	GLC3A	increased intraocular pressure (HP:0007906) OD/OS 53/?; cup to disc ratio 0.7/no view; visual acuity hand 6/60/no light perception; increased corneal diameter (HP:0000485); right megalocornea (HP:0000485); right corneal haze	CYP1B1	CYP1B1	1	5	Johan den Dunnen
00081703	-	PubMed: Rauf 2016, Journal: Rauf 2016	family, 4 affecteds	F	-	Pakistan	-	-	-	-	-	GLC3A	visual acuity light perception/light perception; buphthalmos (HP:0000557); corneal opacity (HP:0007957)	CYP1B1	CYP1B1	1	4	Johan den Dunnen
00081704	-	PubMed: Rauf 2016, Journal: Rauf 2016	family, 6 affecteds	F	-	Pakistan	-	-	-	-	-	GLC3A	visual acuity no light perception/no light perception; corneal opacity (HP:0007957)	CYP1B1	CYP1B1	1	6	Johan den Dunnen
00081705	-	PubMed: Rauf 2016, Journal: Rauf 2016	family, 3 affecteds	M	-	Pakistan	-	-	-	-	-	GLC3A	buphthalmos (HP:0000557); corneal opacity (HP:0007957)	CYP1B1	CYP1B1	1	3	Johan den Dunnen
00382095	127	PubMed: Patel 2019	-	?	-	United Kingdom (Great Britain)	-	-	-	-	-	GLC3A	anterior segment developmental anomalies including glaucoma; MIM, 231300 or 617315	CYP1B1	CYP1B1	2	1	LOVD
00382096	128	PubMed: Patel 2019	-	?	-	United Kingdom (Great Britain)	-	-	-	-	-	GLC3A	anterior segment developmental anomalies including glaucoma; MIM, 231300 or 617315	CYP1B1	CYP1B1	2	1	LOVD
00382097	136	PubMed: Patel 2019	-	?	-	United Kingdom (Great Britain)	-	-	-	-	-	GLC3A	anterior segment developmental anomalies including glaucoma; MIM, 231300 or 617315	CYP1B1	CYP1B1	2	1	LOVD
00382098	150	PubMed: Patel 2019	-	?	-	United Kingdom (Great Britain)	-	-	-	-	-	GLC3A	anterior segment developmental anomalies including glaucoma; MIM, 231300 or 617315	CYP1B1	CYP1B1	2	1	LOVD
00382099	155	PubMed: Patel 2019	-	?	-	United Kingdom (Great Britain)	-	-	-	-	-	GLC3A	anterior segment developmental anomalies including glaucoma; MIM, 231300 or 617315	CYP1B1	CYP1B1	1	1	LOVD
00382100	159	PubMed: Patel 2019	-	?	-	United Kingdom (Great Britain)	-	-	-	-	-	GLC3A	anterior segment developmental anomalies including glaucoma; MIM, 231300 or 617315	CYP1B1	CYP1B1	1	1	LOVD
00382101	167	PubMed: Patel 2019	-	?	-	United Kingdom (Great Britain)	-	-	-	-	-	GLC3A	anterior segment developmental anomalies including glaucoma; MIM, 231300 or 617315	CYP1B1	CYP1B1	3	1	LOVD
00382102	177	PubMed: Patel 2019	-	?	-	United Kingdom (Great Britain)	-	-	-	-	-	GLC3A	anterior segment developmental anomalies including glaucoma; MIM, 231300 or 617315	CYP1B1	CYP1B1	1	1	LOVD
00382103	180	PubMed: Patel 2019	-	?	-	United Kingdom (Great Britain)	-	-	-	-	-	GLC3A	anterior segment developmental anomalies including glaucoma; MIM, 231300 or 617315	CYP1B1	CYP1B1	1	1	LOVD
00382104	182	PubMed: Patel 2019	-	?	-	United Kingdom (Great Britain)	-	-	-	-	-	GLC3A	anterior segment developmental anomalies including glaucoma; MIM, 231300 or 617315	CYP1B1	CYP1B1	3	1	LOVD
00382118	223	PubMed: Patel 2019	-	?	-	United Kingdom (Great Britain)	-	-	-	-	-	GLC3A	anterior segment developmental anomalies including glaucoma; MIM, 225750	TREX1	TREX1	1	1	LOVD
00382121	322	PubMed: Patel 2019	-	?	-	United Kingdom (Great Britain)	-	-	-	-	-	GLC3A	anterior segment developmental anomalies including glaucoma; MIM, 217700 or 217400	SLC4A11	SLC4A11	1	1	LOVD

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Global Variome shared LOVD

COL6A3 (collagen, type VI, alpha 3)