Global Variome shared LOVD
COL4A6 (collagen, type IV, alpha 6)
LOVD v.3.0 Build 30b [
Current LOVD status
]
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Curator:
Judy Savige
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View all individuals with variants in gene COL4A6
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View all diseases associated with gene COL4A6
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View all screenings for gene COL4A6
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All individuals with variants in gene COL4A6
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.
38 entries on 1 page. Showing entries 1 - 38.
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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
00000208
-
PubMed: Sun 2011
,
Journal: Sun 2011
-
M
no
Netherlands
-
-
-
-
-
CHTE
central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)
27
1
Yu Sun
00000209
-
PubMed: Sun 2011
,
Journal: Sun 2011
-
M
no
Netherlands
-
-
-
-
-
CHTE
central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)
28
1
Yu Sun
00091669
19377216-Pat?
PubMed: Tarpey 2009
208 families with X-linked mental retardation
-
-
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
MRX;IDX
-
1
23
Lucy Raymond
00091670
19377217-Pat?
PubMed: Tarpey 2009
208 families with X-linked mental retardation
-
-
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
MRX;IDX
-
1
1
Lucy Raymond
00091671
19377218-Pat?
PubMed: Tarpey 2009
208 families with X-linked mental retardation
-
-
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
MRX;IDX
-
1
35
Lucy Raymond
00091672
19377219-Pat?
PubMed: Tarpey 2009
208 families with X-linked mental retardation
-
-
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
MRX;IDX
-
1
1
Lucy Raymond
00091673
19377220-Pat?
PubMed: Tarpey 2009
208 families with X-linked mental retardation
-
-
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
MRX;IDX
-
1
4
Lucy Raymond
00091674
19377221-Pat?
PubMed: Tarpey 2009
208 families with X-linked mental retardation
-
-
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
MRX;IDX
-
1
9
Lucy Raymond
00091675
19377222-Pat?
PubMed: Tarpey 2009
208 families with X-linked mental retardation
-
-
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
MRX;IDX
-
1
1
Lucy Raymond
00091676
19377223-Pat?
PubMed: Tarpey 2009
208 families with X-linked mental retardation
-
-
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
MRX;IDX
-
1
1
Lucy Raymond
00092721
-
Thielen (2003) Hum Mutat Online, #662
-
M
-
United Kingdom (Great Britain)
-
-
-
-
-
ATS
-
1
1
Judy Savige
00092722
-
PubMed: Plant 1999
-
M
-
China
-
-
-
-
-
ATS
22y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal
1
1
Judy Savige
00092723
-
PubMed: Thielen 2003
AS & DL
F
-
United Kingdom (Great Britain)
-
-
-
-
-
ATS
no hearing loss; no ocular phenotype; glomerulus abnormal
1
1
Judy Savige
00092724
-
PubMed: Thielen 2003
AS & DL
-
-
United Kingdom (Great Britain)
-
-
-
-
-
ATS
-
1
1
Judy Savige
00092725
-
PubMed: Mothes 2002
4-generation family, 7 affecteds
F;M
-
-
white
-
-
-
-
ATS
hearing loss +/-; ocular abnormality +/-; hearing loss; ocular changes; no renal failure
1
7
Judy Savige
00092850
-
PubMed: Wang 2002
-
-
-
China
-
-
-
-
-
ATS
hearing loss; no ocular phenotype; glomerulus abnormal
1
1
Judy Savige
00092852
-
PubMed: Renieri 1994
-
M
-
Italy
-
-
-
-
-
ATS
17y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal
1
1
Judy Savige
00093038
-
PubMed: Hoischen 2009
-
F
-
Germany
-
-
-
-
-
ATS
hearing loss; no ocular phenotype; glomerulus abnormal
1
1
Judy Savige
00093370
-
PubMed: Oohashi 2011
AS & DL
F
-
-
-
-
-
-
-
ATS
-
1
1
Judy Savige
00093446
-
PubMed: Uliana 2011
-
F
-
-
-
-
-
-
-
ATS
micro and macrohaematuria, proteinuria, normal serum creatinine. Esophageal leiomyomatosis. Mother had microhaematuria, intermitenet proteinuria, gross hematuris episodes from childhood, esophageal achalasia at 22y, uterine leiomyomatosis.; no hearing loss; no ocular phenotype; glomerulus abnormal
1
1
Judy Savige
00093447
-
PubMed: Uliana 2011
-
M
-
-
-
-
-
-
-
ATS
esophageal achalasia at 3y, microhaematuria at 4 y Progressive sensorineural hearing loss since 6y, hearing aids at 11y Diffuse esophageal leiomyomatosis at 9y Microhaematuria, proteinuria and moderately elevated creatinine levels at 19y No family history.; hearing loss
1
1
Judy Savige
00093448
-
PubMed: Uliana 2011
-
M
-
-
-
-
-
-
-
ATS
bilateral cataract and progressive hearing loss. Hearing aids at 11y Dysphagia since childhood. Eosophageal leiomyoma, microhaematuria and proteinuria at 14y GBM pathology at 32y, also absent ?3(IV) and ?5(IV) expression and normal ?1(IV) expression. Normal renal function at 33y Sister diagnosed with Hirschprung disease. Mother had achalasia at 9y, and uterine leiomyomas.; hearing loss; ocular changes; glomerulus abnormal
1
1
Judy Savige
00093455
-
PubMed: Nozu 2008
,
PubMed: Nozu 20093
-
F
-
Japan
-
-
-
-
-
ATS1
haematuria and proteinuria at 3y, GBM abnormalities at 7, heavy proteinuria and hypoalbuminemia, and normal renal function. ; no ocular phenotype; glomerulus normal
1
1
Judy Savige
00093458
-
PubMed: Zhang 2012
-
-
-
China
-
-
-
-
-
ATS1
-
1
1
Judy Savige
00093462
-
Heidet
-
-
-
-
-
-
-
-
-
ATS
-
1
1
Judy Savige
00093977
23958657-Fam3PatIII1
PubMed: Sa 2013
2-generation family, affected mother/son
F
-
Portugal
-
-
-
-
-
ATS1
46y renal failure; hearing loss; no ocular phenotype; renal failure
1
2
Maria João Nabais Sá
00152665
-
-
-
F
no
Czech Republic
-
01y
-
-
-
ATS
microscopic hematuria, leiomyomatosis of the eosophagus, billateral cataract
1
1
Pavlina Plevova
00153458
-
-
-
F
-
United Kingdom (Great Britain)
-
-
-
-
-
ATS2
-
1
1
Judy Savige
00153535
-
-
-
M
-
United Kingdom (Great Britain)
-
-
-
-
-
ATS2
-
1
1
Judy Savige
00153670
-
-
-
F
-
United Kingdom (Great Britain)
-
-
-
-
-
ATS2
-
1
1
Judy Savige
00153988
-
PubMed: Nozu 2017
,
Journal: Nozu 2017
-
-
-
Japan
-
-
-
-
-
ATS
-
1
1
Judy Savige
00153989
-
PubMed: Nozu 2017
,
Journal: Nozu 2017
-
-
-
Japan
-
-
-
-
-
ATS
-
1
1
Judy Savige
00153990
-
PubMed: Nozu 2017
,
Journal: Nozu 2017
-
-
-
Japan
-
-
-
-
-
ATS
-
1
1
Judy Savige
00153991
-
PubMed: Nozu 2017
,
Journal: Nozu 2017
-
-
-
Japan
-
-
-
-
-
ATS
-
1
1
Judy Savige
00153992
-
PubMed: Nozu 2017
,
Journal: Nozu 2017
-
-
-
Japan
-
-
-
-
-
ATS
-
1
1
Judy Savige
00153993
-
PubMed: Moriniere 2014
,
Journal: Moriniere 2014
-
-
-
France
-
-
-
-
-
ATS2
hematuria (HP:0000790)
1
1
Judy Savige
00153994
-
PubMed: Liu 2015
,
Journal: Liu 2015
15y-haematuria, proteinuria. Mutation in another collagen gene too - COL6A3:c.2782C >T, p.R928C. Affected mother had only a mild case of diffuse oesphageal leiomyomatosis.
M
-
China
Chinese
-
-
-
-
ATS
no hearing loss (-HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)
1
1
Judy Savige
00154292
-
-
-
F
-
-
Okinawan, white, Japanese, Chinese, Filipino
-
-
-
-
ATS2
-
1
1
Judy Savige
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