All individuals with variants in gene COL12A1

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.

49 entries on 1 page. Showing entries 1 - 49.

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
00050621	-	PubMed: DDDS 2015, Journal: DDDS 2015	family, affected parents	M	-	United Kingdom (Great Britain)	-	-	-	Decipher	-	?	global developmental delay, aggressive behavior, restrictive behavior, microcephaly, abnormal facial shape, macrotia, abnormality of eye movement	1	2	Johan den Dunnen
00207941	-	-	-	M	-	Germany	-	-	-	-	-	-	HP:0003236 (Elevated serum creatine phosphokinase); HP:0011805 (Abnormality of muscle morphology); HP:0040081 (Abnormal levels of creatine kinase in blood); HP:0009045 (Exercise-induced rhabdomyolysis)	1	1	Andreas Laner
00208534	-	-	-	M	-	Germany	-	-	-	-	-	-	HP:0010549 (Weakness due to upper motor neuron dysfunction); HP:0003236 (Elevated serum creatine phosphokinase)	1	1	Andreas Laner
00265910	Pat81	PubMed: O'Grady 2016	2-generation family, 1 affected, unaffected non-carrier parents	M	-	-	-	-	-	-	-	MDC	infantile hypotonia, arthrogryposis, congenital hip dysplasia, gross motor delay, contractures, hypermobility, scoliosis; 3y-walking	1	1	Johan den Dunnen
00289426	-	-	-	M	-	-	-	-	-	-	-	?	Abnormality of hand joint mobility (HP:0006256); Myopathy (HP:0003198); Muscular dystrophy (HP:0003560)	1	1	IMGAG
00294191	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	7	Mohammed Faruq
00294194	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	10	Mohammed Faruq
00294198	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	3	Mohammed Faruq
00294200	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	37	Mohammed Faruq
00294201	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00294202	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	4	Mohammed Faruq
00295921	-	-	-	M	-	-	-	-	-	-	-	?	Abnormal pyramidal signs (HP:0007256); Split hand (HP:0001171); Scapular winging (HP:0003691); Gait disturbance (HP:0001288); Hypoplasia of the corpus callosum (HP:0002079); Foot dorsiflexor weakness (HP:0009027)	1	1	Andreas Laner
00305115	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00305116	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00314143	-	PubMed: Topf 2020	analysis 1001 patients with unexplained limb-girdle weakness	-	-	-	-	-	-	-	-	LGMD	-	1	1	Johan den Dunnen
00374696	S-929	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00392008	MDCRC/1867/DBI-1509	PubMed: Karthikeyan 2024	-	M	yes	India	-	-	-	yes	-	DMD	proximal muscle weakness (HP:0003701)	1	1	Lakshmi Bremadesam
00392748	188497	-	-	F	no	Germany	-	-	-	-	-	BTHLM	Global developmental delay, Delayed ability to walk, Motor delay, Delayed gross motor development	1	1	Andreas Laner
00417031	-	-	-	-	-	Italy	-	-	-	-	-	?	-	1	1	Lucia Micale
00417036	-	-	-	-	-	Italy	-	-	-	-	-	?	-	1	1	Lucia Micale
00417045	-	-	-	-	-	Italy	-	-	-	-	-	?	-	2	1	Lucia Micale
00417070	-	-	-	-	-	Italy	-	-	-	-	-	?	-	1	1	Lucia Micale
00417076	-	-	-	-	-	Italy	-	-	-	-	-	?	-	1	1	Lucia Micale
00417084	-	-	-	-	-	Italy	-	-	-	-	-	?	-	1	1	Lucia Micale
00417092	-	-	-	-	-	Italy	-	-	-	-	-	EDS	-	1	1	Lucia Micale
00417094	-	-	-	-	-	Italy	-	-	-	-	-	?	-	1	1	Lucia Micale
00417108	-	-	-	-	-	Italy	-	-	-	-	-	?	-	1	1	Lucia Micale
00417110	-	-	-	-	-	Italy	-	-	-	-	-	?	-	1	1	Lucia Micale
00417116	-	-	-	-	-	Italy	-	-	-	-	-	EDS	-	1	1	Lucia Micale
00417126	-	-	-	-	-	Italy	-	-	-	-	-	?	-	1	1	Lucia Micale
00417133	-	-	-	-	-	Italy	-	-	-	-	-	?	-	1	1	Lucia Micale
00431788	P-0148	Leone 2023, submitted	-	-	-	Italy	-	-	-	-	-	STL	-	2	1	Maria Pia Leone
00431794	P-0154	Leone 2023, submitted	-	-	-	Italy	-	-	-	-	-	?	-	1	1	Maria Pia Leone
00431796	P-0156	Leone 2023, submitted	-	-	-	Italy	-	-	-	-	-	?	-	1	1	Maria Pia Leone
00431804	P-0164	Leone 2023, submitted	-	-	-	Italy	-	-	-	-	-	?	-	1	1	Maria Pia Leone
00431808	P-0168	Leone 2023, submitted	-	-	-	Italy	-	-	-	-	-	?	-	1	1	Maria Pia Leone
00431818	P-0179	Leone 2023, submitted	-	-	-	Italy	-	-	-	-	-	?	-	1	1	Maria Pia Leone
00431822	P-0183	Leone 2023, submitted	-	-	-	Italy	-	-	-	-	-	?	-	1	1	Maria Pia Leone
00431826	P-0187	Leone 2023, submitted	-	-	-	Italy	-	-	-	-	-	?	-	1	1	Maria Pia Leone
00431827	P-0188	Leone 2023, submitted	-	-	-	Italy	-	-	-	-	-	?	-	1	1	Maria Pia Leone
00431829	P-0190	Leone 2023, submitted	-	-	-	Italy	-	-	-	-	-	?	-	1	1	Maria Pia Leone
00434893	1	PubMed: Fransen et al., 2021	34 candidate genes targeted from 787 independent keratoconus patients and 856 ethnically matched controls, including results from unpublished studies and literature search. 7 patients with EDS gene variants.	?	?	Belgium	-	-	-	-	-	EDS, KCTN1	Diagnosis was based on slit-lamp biomicroscopy and tomographic evaluation of the cornea., Hypermobility, fragile skin, easy bruising.	1	1	Nassim Louail
00442642	Pat14	PubMed: Westra 2019	-	F	-	-	-	-	-	-	-	NMD	Arthrogryposis, muscle atrophy, multiple fractures, scoliosis, myalgia in legs, weight loss	1	1	Johan den Dunnen
00442643	Pat15	PubMed: Westra 2019	family, several affected	M	-	-	-	-	-	-	-	NMD	Delayed motor development (walking at 25 months), mild proximal muscle weakness, learning difficulties, scaring of skin; muscle biopsy: hypertrophic fibers; inconclusive EMG result; CK within normal range	1	2	Johan den Dunnen
00442720	Pat92	PubMed: Westra 2019	-	M	-	-	-	-	-	-	-	NMD	-	1	1	Johan den Dunnen
00442721	Pat93	PubMed: Westra 2019	-	M	-	-	-	-	-	-	-	NMD	Myopathy, mild psychomotor retardation, mild dysmorphias	1	1	Johan den Dunnen
00442783	Pat155	PubMed: Westra 2019	-	M	-	-	-	-	-	-	-	NMD	Myalgia, fatigue, mild myopathic features in muscle biopsy	1	1	Johan den Dunnen
00457300	-	PubMed: İpek 2024	-	F	yes	Turkey	-	-	-	-	-	UCMD2	IUGR (HP:0001511); joint hypermobility (HP:0001382); frequent falls (HP:0002359); delayed gross motor development (HP:0002194 ); high palate (HP:0000218); distal joint hypermobility (HP:0020152); finger joint contracture (HP:0034681); pes planus (HP:0001763); dry skin (HP:0000958); keratosis pilaris (HP:0032152); limb muscle weakness (HP:0003690).	1	1	Deepak Subramanian
00457407	-	PubMed: El Sherif 2024	Muscle biopsy showed mild to moderate endomysial fibrosis and absent staining in collagen XII.	F	yes	(Egypt)	-	-	-	-	-	BTHLM2	Motor delay (HP:0001270); neonatal hypotonia (HP:0001319); decreased fetal movement (HP:0001558); intrauterine growth retardation (HP:0001511); oligohydramnios (HP:0001562); high, narrow palate (HP:0002705); hyperextensible skin (HP:0000974); palmoplantar cutis laxa (HP:0007517); pectus excavatum (HP:0000767); neck muscle weakness (HP:0000467); kyphoscoliosis (HP:0002751); bilateral knee contractures (HP:0034671); distal joint hypermobility (HP:0020152); respiratory insufficiency due to muscle weakness (HP:0002747); pelvic girdle muscle atrophy (HP:0008988); proximal lower limb amyotrophy (HP:0008956); distal lower limb amyotrophy (HP:0008944); soft, doughy skin (HP:0001027).	1	1	Deepak Subramanian

Legend

How to query

Global Variome shared LOVD

COL12A1 (collagen, type XII, alpha 1)