Disease #01448 (BTHLM1A (myopathy, Bethlem, type 1A), OMIM:158810)

Official abbreviation	BTHLM1A
Name	myopathy, Bethlem, type 1A
OMIM ID	158810
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant, Autosomal recessive
Individuals reported having this disease	169
Phenotype entries for this disease	169
Associated with 1 gene	COL6A1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2025-09-09 12:19:34 +02:00 (CEST)

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.

How to query this table

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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'

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169 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
00102743	MYO-SEQ Pat1	MYO-SEQ project, UK	-	M	no	Germany	-	-	-	-	-	BTHLM1A	-	-	COL6A3	2	1	Alison Blain
00103084	MYO-SEQ Pat2	MYO-SEQ project, UK	-	M	?	United Kingdom (Great Britain)	-	-	-	-	-	BTHLM1A	-	-	COL6A2, COL6A3	3	1	Alison Blain
00108709	MYO-SEQ Pat10	MYO-SEQ project, UK	-	M	?	United Kingdom (Great Britain)	-	-	-	-	-	BTHLM1A	-	COL6A2	COL6A2	1	1	Alison Blain
00108710	MYO-SEQ Pat11	MYO-SEQ project, UK	-	M	no	United Kingdom (Great Britain)	-	-	-	-	-	BTHLM1A	-	COL6A2	COL6A2	1	1	Alison Blain
00108711	MYO-SEQ Pat12	MYO-SEQ project, UK	-	M	no	United Kingdom (Great Britain)	-	-	-	-	-	BTHLM1A	-	COL6A1, COL6A2	COL6A1, COL6A2	3	1	Alison Blain
00108712	MYO-SEQ Pat13	MYO-SEQ project, UK	-	M	no	United Kingdom (Great Britain)	-	-	-	-	-	BTHLM1A	-	COL6A2	COL6A2	3	1	Alison Blain
00108713	MYO-SEQ Pat14	MYO-SEQ project, UK	-	M	no	United Kingdom (Great Britain)	-	-	-	-	-	BTHLM1A	-	COL6A2	COL6A2	2	1	Alison Blain
00108714	MYO-SEQ Pat15	MYO-SEQ project, UK	-	F	no	United Kingdom (Great Britain)	-	-	-	-	-	BTHLM1A	-	COL6A2	COL6A2	1	1	Alison Blain
00108715	MYO-SEQ Pat16	MYO-SEQ project, UK	-	M	no	United Kingdom (Great Britain)	-	-	-	-	-	BTHLM1A	-	COL6A2	COL6A2	1	1	Alison Blain
00108716	MYO-SEQ Pat17	MYO-SEQ project, UK	-	M	no	United Kingdom (Great Britain)	-	-	-	-	-	BTHLM1A	-	COL6A3	COL6A3	1	1	Alison Blain
00108717	MYO-SEQ Pat18	MYO-SEQ project, UK	-	F	?	United Kingdom (Great Britain)	-	-	-	-	-	BTHLM1A	-	COL6A1	COL6A1	1	1	Alison Blain
00108718	MYO-SEQ Pat19	MYO-SEQ project, UK	-	M	?	United Kingdom (Great Britain)	-	-	-	-	-	BTHLM1A	-	COL6A3	COL6A3	1	1	Alison Blain
00108720	MYO-SEQ Pat20	MYO-SEQ project, UK	-	F	?	United Kingdom (Great Britain)	-	-	-	-	-	BTHLM1A	-	COL6A3	COL6A3	2	1	Alison Blain
00108721	MYO-SEQ Pat21	MYO-SEQ project, UK	-	M	no	United Kingdom (Great Britain)	-	-	-	-	-	BTHLM1A	-	COL6A2	COL6A2	1	1	Alison Blain
00108722	MYO-SEQ Pat22	MYO-SEQ project, UK	-	-	no	United Kingdom (Great Britain)	-	-	-	-	-	BTHLM1A	-	COL6A3	COL6A3	1	1	Alison Blain
00108723	MYO-SEQ Pat23	MYO-SEQ project, UK	-	F	no	United Kingdom (Great Britain)	-	-	-	-	-	BTHLM1A	-	COL6A1	COL6A1	1	1	Alison Blain
00108724	MYO-SEQ Pat24	MYO-SEQ project, UK	-	M	no	United Kingdom (Great Britain)	-	-	-	-	-	BTHLM1A	-	COL6A2	COL6A2	1	1	Alison Blain
00108725	MYO-SEQ Pat25	MYO-SEQ project, UK	-	F	yes	United Kingdom (Great Britain)	-	-	-	-	-	BTHLM1A	-	COL6A3	COL6A3	1	1	Alison Blain
00108726	MYO-SEQ Pat26	MYO-SEQ project, UK	-	F	no	United Kingdom (Great Britain)	-	-	-	-	-	BTHLM1A	-	COL6A1	COL6A1	1	1	Alison Blain
00108727	MYO-SEQ Pat27	MYO-SEQ project, UK	-	F	?	United Kingdom (Great Britain)	-	-	-	-	-	BTHLM1A	-	COL6A2	COL6A2	1	1	Alison Blain
00108728	MYO-SEQ Pat28	MYO-SEQ project, UK	2-generation family, affected mother/daughter	F	no	United Kingdom (Great Britain)	-	-	-	-	-	BTHLM1A	-	COL6A2	COL6A2	1	2	Alison Blain
00108729	MYO-SEQ Pat29	MYO-SEQ project, UK	-	F	yes	United Kingdom (Great Britain)	-	-	-	-	-	BTHLM1A	-	COL6A2	COL6A2	1	2	Alison Blain
00108730	MYO-SEQ Pat3	MYO-SEQ project, UK	-	M	?	United Kingdom (Great Britain)	-	-	-	-	-	BTHLM1A	-	COL6A2	COL6A2	1	1	Alison Blain
00108731	MYO-SEQ Pat30	MYO-SEQ project, UK	-	M	no	United Kingdom (Great Britain)	-	-	-	-	-	BTHLM1A	-	COL6A2	COL6A2	2	1	Alison Blain
00108732	MYO-SEQ Pat31	MYO-SEQ project, UK	-	F	?	United Kingdom (Great Britain)	-	-	-	-	-	BTHLM1A	-	COL6A1	COL6A1	1	1	Alison Blain
00108733	MYO-SEQ Pat32	MYO-SEQ project, UK	-	F	?	United Kingdom (Great Britain)	-	-	-	-	-	BTHLM1A	-	COL6A1	COL6A1	1	1	Alison Blain
00108734	MYO-SEQ Pat33	MYO-SEQ project, UK	-	M	no	United Kingdom (Great Britain)	-	-	-	-	-	BTHLM1A	-	COL6A3	COL6A3	1	1	Alison Blain
00108735	MYO-SEQ Pat34	MYO-SEQ project, UK	-	F	no	United Kingdom (Great Britain)	-	-	-	-	-	BTHLM1A	-	COL6A3	COL6A3	1	1	Alison Blain
00108737	MYO-SEQ Pat36	MYO-SEQ project, UK	-	M	?	United Kingdom (Great Britain)	-	-	-	-	-	BTHLM1A	-	COL6A1	COL6A1	1	1	Alison Blain
00108738	MYO-SEQ Pat4	MYO-SEQ project, UK	-	F	no	United Kingdom (Great Britain)	-	-	-	-	-	BTHLM1A	-	COL6A3	COL6A3	1	1	Alison Blain
00108739	MYO-SEQ Pat5	MYO-SEQ project, UK	-	M	?	United Kingdom (Great Britain)	-	-	-	-	-	BTHLM1A	-	COL6A1	COL6A1	1	1	Alison Blain
00108740	MYO-SEQ Pat6	MYO-SEQ project, UK	2-generation family, affected father and 2 sons	M	?	United Kingdom (Great Britain)	-	-	-	-	-	BTHLM1A	-	COL6A1	COL6A1	1	3	Alison Blain
00108741	MYO-SEQ Pat7	MYO-SEQ project, UK	-	M	?	United Kingdom (Great Britain)	-	-	-	-	-	BTHLM1A	-	COL6A2	COL6A2	2	1	Alison Blain
00108742	MYO-SEQ Pat8	MYO-SEQ project, UK	-	M	yes	United Kingdom (Great Britain)	-	-	-	-	-	BTHLM1A	-	COL6A3	COL6A3	1	1	Alison Blain
00108743	MYO-SEQ Pat9	MYO-SEQ project, UK	-	M	no	United Kingdom (Great Britain)	-	-	-	-	-	BTHLM1A	-	COL6A2	COL6A2	1	1	Alison Blain
00108745	?	PubMed: Lampe 2005	-	-	-	-	-	-	-	-	-	BTHLM1A	-	COL6A1	COL6A1	1	1	Johan den Dunnen
00108747	?	PubMed: Lampe 2005	-	-	-	-	-	-	-	-	-	BTHLM1A	-	COL6A1	COL6A1	1	1	Johan den Dunnen
00108748	P13	PubMed: Lucioli 2005	-	-	-	-	-	-	-	-	-	BTHLM1A	-	COL6A1	COL6A1	1	1	Anne Lampe
00108749	?	PubMed: Lampe 2005	-	-	-	-	-	-	-	-	-	BTHLM1A	-	COL6A1	COL6A1	1	1	Johan den Dunnen
00108750	?	PubMed: LamandÈ 1999	-	M	-	-	-	-	-	-	-	BTHLM1A	-	COL6A1	COL6A1	1	1	Johan den Dunnen
00108751	?	PubMed: Pan 2003	-	M	-	-	-	-	-	-	-	BTHLM1A	-	COL6A1	COL6A1	1	1	Johan den Dunnen
00108752	P10	PubMed: Lucioli 2005	unrelated patients	-	-	-	-	-	-	-	-	BTHLM1A	-	COL6A1	COL6A1	1	1	Anne Lampe
00108753	?	PubMed: Pepe 1999	3 generation family, affected mother and grandfather	-	-	-	-	-	-	-	-	BTHLM1A	-	COL6A1	COL6A1	1	3	Johan den Dunnen
00108755	?	PubMed: Lampe 2005	-	-	-	-	-	-	-	-	-	BTHLM1A	-	COL6A1, COL6A3	COL6A1, COL6A3	2	1	Johan den Dunnen
00108758	?	PubMed: Lampe 2005	-	-	-	-	-	-	-	-	-	BTHLM1A	mild	COL6A1	COL6A1	1	3	Johan den Dunnen
00108760	?	PubMed: Vanegas 2002	4 generation family	-	-	Italy	-	-	-	-	-	BTHLM1A	mild	COL6A1	COL6A1	1	1	Johan den Dunnen
00108761	P1	PubMed: Lucioli 2005	-	-	-	-	-	-	-	-	-	BTHLM1A	-	COL6A1	COL6A1	1	1	Anne Lampe
00108762	P6	PubMed: Lucioli 2005	3 generation family	-	-	-	-	-	-	-	-	BTHLM1A	-	COL6A1	COL6A1	1	1	Anne Lampe
00108763	P5	PubMed: Lucioli 2005	-	-	-	-	-	-	-	-	-	BTHLM1A	prominent contractures	COL6A1	COL6A1	1	1	Anne Lampe
00108765	B	PubMed: Pepe 2005	-	-	-	-	-	-	-	-	-	BTHLM1A	heterozygous, change in one individual	COL6A1	COL6A1	1	1	Anne Lampe
00108767	P16	PubMed: Lucioli 2005	-	-	-	-	-	-	-	-	-	BTHLM1A	-	COL6A1	COL6A1	1	1	Anne Lampe
00108768	Pat28, Pat29	PubMed: Lampe 2005	first degree relatives, no confirmatory data	-	-	-	-	-	-	-	-	BTHLM1A	-	COL6A1, COL6A3	COL6A1, COL6A3	2	1	Johan den Dunnen
00108769	P12	PubMed: Lucioli 2005	-	-	-	-	-	-	-	-	-	BTHLM1A	-	COL6A1	COL6A1	1	1	Anne Lampe
00108774	Pat43	PubMed: Lampe 2005	-	-	-	-	-	-	-	-	-	BTHLM1A	severe	COL6A1, COL6A3	COL6A1, COL6A3	2	1	Johan den Dunnen
00108776	P14	PubMed: Lucioli 2005	-	-	-	-	-	-	-	-	-	BTHLM1A	severe	COL6A1	COL6A1	1	1	Anne Lampe
00108777	?	PubMed: Jobsis 1996	3 generation family	-	-	-	-	-	-	-	-	BTHLM1A	-	COL6A1	COL6A1	1	1	Johan den Dunnen
00108778	?	PubMed: LamandÈ 1998	large family, 9 affecteds	-	-	-	-	-	-	-	-	BTHLM1A	-	COL6A1	COL6A1	1	9	Johan den Dunnen
00108785	?	PubMed: Lampe 2005	-	-	-	-	-	-	-	-	-	BTHLM1A	severe	COL6A1	COL6A1	1	1	Johan den Dunnen
00108789	?	PubMed: Lampe 2005	-	-	-	-	-	-	-	-	-	BTHLM1A	change in 1/78 individuals	COL6A2	COL6A2	1	1	Johan den Dunnen
00108791	?	PubMed: Lampe 2005	-	-	-	-	-	-	-	-	-	BTHLM1A	-	COL6A2	COL6A2	1	1	Johan den Dunnen
00108792	?	PubMed: Lampe 2005	3 first degree relatives	-	-	-	-	-	-	-	-	BTHLM1A	1/3 severe	COL6A2	COL6A2	1	3	Johan den Dunnen
00108798	?	PubMed: Lampe 2005	-	-	-	-	-	-	-	-	-	BTHLM1A	-	COL6A2	COL6A2	1	1	Johan den Dunnen
00108800	?	PubMed: Lampe 2005	-	-	-	-	-	-	-	-	-	BTHLM1A	-	COL6A2	COL6A2	1	1	Johan den Dunnen
00108802	-	PubMed: Jobsis 1996	-	-	-	-	-	-	-	-	-	BTHLM1A	-	COL6A2	COL6A2	1	1	Johan den Dunnen
00108807	?	PubMed: Lampe 2005	-	-	-	-	-	-	-	-	-	BTHLM1A	-	COL6A3	COL6A3	1	1	Johan den Dunnen
00108809	?	PubMed: Lampe 2005	-	-	-	-	-	-	-	-	-	BTHLM1A	-	COL6A3	COL6A3	1	1	Johan den Dunnen
00108810	?	PubMed: Lampe 2005	-	-	-	-	-	-	-	-	-	BTHLM1A	-	COL6A3	COL6A3	1	1	Johan den Dunnen
00108811	?	PubMed: Lampe 2005	-	-	-	-	-	-	-	-	-	BTHLM1A	-	COL6A3	COL6A3	1	1	Johan den Dunnen
00108812	-	PubMed: Pan 1998, OMIM:var0001	large 3 generation family	-	-	United States	-	-	-	-	-	BTHLM1A	-	COL6A3	COL6A3	1	1	Johan den Dunnen
00108813	?	PubMed: Lampe 2005	-	-	-	-	-	-	-	-	-	BTHLM1A	severe	COL6A3	COL6A3	1	1	Johan den Dunnen
00108815	-	PubMed: Pepe 1999	2 generation family	-	-	-	-	-	-	-	-	BTHLM1A	-	COL6A3	COL6A3	1	1	Johan den Dunnen
00108818	?	PubMed: Lampe 2005	-	-	-	-	-	-	-	-	-	BTHLM1A	severe	COL6A3	COL6A3	1	1	Johan den Dunnen
00108822	?	PubMed: Lampe 2005	-	-	-	-	-	-	-	-	-	BTHLM1A	-	COL6A3	COL6A3	1	1	Johan den Dunnen
00108823	?	PubMed: Baker 2007	-	M	-	Australia	-	-	-	-	-	BTHLM1A	-	COL6A1, COL6A2, COL6A3	COL6A1, COL6A2, COL6A3	28	1	Johan den Dunnen
00108824	?	PubMed: Baker 2007	-	M	-	United States	-	-	-	-	-	BTHLM1A	CPK normal	COL6A1, COL6A2, COL6A3	COL6A1, COL6A2, COL6A3	34	1	Johan den Dunnen
00108825	?	PubMed: Baker 2007	-	M	-	United States	-	-	-	-	-	BTHLM1A	CPK increased	COL6A1, COL6A2, COL6A3	COL6A1, COL6A2, COL6A3	38	1	Johan den Dunnen
00108826	?	PubMed: Baker 2007	-	F	-	Australia	-	-	-	-	-	BTHLM1A	CPK increased	COL6A1, COL6A2, COL6A3	COL6A1, COL6A2, COL6A3	27	1	Johan den Dunnen
00108827	?	PubMed: Baker 2007	-	M	-	New Zealand	-	-	-	-	-	BTHLM1A	CPK normal	COL6A1, COL6A2, COL6A3	COL6A1, COL6A2, COL6A3	31	1	Johan den Dunnen
00108828	?	PubMed: Baker 2007	-	M	-	Australia	-	-	-	-	-	BTHLM1A	-	COL6A1, COL6A2, COL6A3	COL6A1, COL6A2, COL6A3	30	1	Johan den Dunnen
00108829	?	PubMed: Baker 2007	-	M	-	United Kingdom (Great Britain)	-	-	-	-	-	BTHLM1A	CPK normal	COL6A1, COL6A2, COL6A3	COL6A1, COL6A2, COL6A3	26	1	Johan den Dunnen
00108830	?	PubMed: Baker 2007	-	M	-	Australia	-	-	-	-	-	BTHLM1A	-	COL6A1, COL6A2, COL6A3	COL6A1, COL6A2, COL6A3	31	1	Johan den Dunnen
00108832	?	PubMed: Baker 2007	-	M	-	Belgium	-	-	-	-	-	BTHLM1A	CPK normal	COL6A1	COL6A1	1	1	Johan den Dunnen
00108833	?	PubMed: Lucioli 2005	unrelated patients	-	-	-	-	-	-	-	-	BTHLM1A	-	COL6A1	COL6A1	1	1	Anne Lampe
00108834	?	PubMed: Lucioli 2005	unrelated patients	-	-	-	-	-	-	-	-	BTHLM1A	-	COL6A1	COL6A1	1	1	Anne Lampe
00108835	P7	PubMed: Lucioli 2005	unrelated patients	-	-	-	-	-	-	-	-	BTHLM1A	-	COL6A1	COL6A1	1	1	Anne Lampe
00108836	P8	PubMed: Lucioli 2005	unrelated patients	-	-	-	-	-	-	-	-	BTHLM1A	-	COL6A1	COL6A1	1	1	Anne Lampe
00108837	P9	PubMed: Lucioli 2005	unrelated patients	-	-	-	-	-	-	-	-	BTHLM1A	-	COL6A1	COL6A1	1	1	Anne Lampe
00108838	?	PubMed: Baker 2007	-	M	-	United States	-	-	-	-	-	BTHLM1A	CPK increased	COL6A1	COL6A1	1	1	Johan den Dunnen
00108839	?	PubMed: Baker 2007	-	F	-	Belgium	-	-	-	-	-	BTHLM1A	CPK normal	COL6A1	COL6A1	1	1	Johan den Dunnen
00108840	?	PubMed: Jobsis 1996	-	-	-	-	-	-	-	-	-	BTHLM1A	-	COL6A2	COL6A2	1	1	Johan den Dunnen
00108844	P2	PubMed: Lucioli 2005	-	-	-	-	-	-	-	-	-	BTHLM1A	-	COL6A1	COL6A1	1	1	Anne Lampe
00108845	P3	PubMed: Lucioli 2005	-	-	-	-	-	-	-	-	-	BTHLM1A	-	COL6A1	COL6A1	1	1	Anne Lampe
00108846	P4	PubMed: Lucioli 2005	-	-	-	-	-	-	-	-	-	BTHLM1A	prominent contractures	COL6A1	COL6A1	1	1	Anne Lampe
00108847	?	PubMed: Lampe 2005	2 affecteds	-	-	-	-	-	-	-	-	BTHLM1A	-	COL6A1	COL6A1	1	2	Johan den Dunnen
00108850	?	-	-	M	-	(United States)	-	-	-	-	-	BTHLM1A	-	COL6A2	COL6A2	1	1	Tom Winder
00108853	?	-	-	F	-	(United States)	-	-	-	-	-	BTHLM1A	-	COL6A1	COL6A1	1	1	Tom Winder
00108854	?	-	-	M	-	United States	-	-	-	-	-	BTHLM1A	-	COL6A1	COL6A1	2	1	Tom Winder
00108855	?	-	-	M	-	Korea, South (Republic)	-	-	-	-	-	BTHLM1A	CPK 520	COL6A1	COL6A1	1	1	Tom Winder
00108858	?	-	-	-	-	(United States)	-	-	-	-	-	BTHLM1A	-	COL6A1	COL6A1	1	1	Tom Winder
00108861	?	-	-	-	-	(United States)	Asian Indian	-	-	-	-	BTHLM1A	weakness, hypotonia; CPK 83	COL6A1	COL6A1	1	1	Tom Winder

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Global Variome shared LOVD

COL6A1 (collagen, type VI, alpha 1)