Disease #00637 (OI2 (osteogenesis imperfecta, type II (OI2)), OMIM:166210)

Official abbreviation	OI2
Name	osteogenesis imperfecta, type II (OI2)
OMIM ID	166210
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	512
Phenotype entries for this disease	11
Associated with 2 genes	COL1A1, COL1A2
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2021-05-16 21:56:03 +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.

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combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
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Example	Matches
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512 entries on 6 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6		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
00132059	1	-	-	F	no	Brazil	-	-	-	-	-	OI2	-	COL1A1, COL1A2	COL1A1	1	1	Karina Silveira
00132061	1	-	-	M	yes	Brazil	-	-	-	-	-	OI2	-	COL1A1, COL1A2	COL1A2	1	1	Karina Silveira
00320491	433	PubMed: Pollitt et al., 2006	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320492	AN_000079	-	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Margherita Maioli
00320602	-	PubMed: Bodian et al., 2009	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	2	1	Peter Byers
00320720	-	-	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Margherita Maioli
00320737	-	PubMed: Pollitt et al., 2006	The patient harbours the g.36436A>G splice site mutation in COL1A2 and the c.613C>G (p.Pro205Ala) missense mutation in COL1A1.	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320862	-	PubMed: Marini et al., 2007 (Mottes, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI2, OI3	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320919	-	PubMed: Pyott et al., 2011	There was one previously affected infant in this family with lethal OI in which prenatal diagnosis was done by mutation identification.	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Peter Byers
00320944	-	PubMed: Lightfoot et al., 1992	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320949	-	PubMed: Marini et al., 2007 (Cohn, Krakow and King, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320969	-	-	-	-	-	-	-	-	-	-	-	OI, OI2, OI3	-	COL1A1	COL1A1	1	1	Sofie Symoens
00320971	-	PubMed: Barkova et al., 2014	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320973	-	PubMed: Bodian et al., 2009	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	2	1	Peter Byers
00321015	-	PubMed: Cohn et al., 1993	In genomic DNA coordinates, the mutation in this patient, which results from an unequal crossover, is g.10328_11056dup	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Peter Byers
00321016	-	PubMed: Bonadio et al., 1990	Skips exon 14.	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321017	-	PubMed: Bodian et al., 2009	Skips exon 14.	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Peter Byers
00321081	-	-	-	-	-	-	white	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Javier Garcia-Planells
00321087	-	PubMed: Yamada et al., 2012	The phenotype of OI type II is not consistent with the data presented in the paper. If the five-base deletion results in retention of the rest of intron 16, an in-frame stop codon (taa) ought to result in nonsense mediated decay (NMD) of the mRNA and a mild OI phenotype.	-	-	-	Japanese	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321106	-	PubMed: Bodian et al., 2009	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Peter Byers
00321114	-	PubMed: Barkova et al., 2014	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321134	-	PubMed: Marini et al., 2007 (Byers, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Peter Byers
00321139	-	PubMed: Marini et al., 2007 (Hyland and Prockop, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI2, OI3	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321142	-	-	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Sofie Symoens
00321144	-	PubMed: Bodian et al., 2009	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Peter Byers
00321181	-	PubMed: Marini et al., 2007 (Hyland and Prockop, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI2, OI3	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321183	-	PubMed: Byers, 1990	-	-	-	-	-	-	-	-	-	OI, OI2, OI3	-	COL1A1	COL1A1	1	1	Peter Byers
00321184	-	PubMed: Marini et al., 2007 (Byers, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Peter Byers
00321185	-	PubMed: Marini et al., 2007 (Byers, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI2, OI3	-	COL1A1	COL1A1	1	1	Peter Byers
00321213	-	PubMed: Sztrolovics et al., 1994	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321219	-	PubMed: Bodian et al., 2009	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	2	1	Peter Byers
00321222	-	PubMed: Marini et al., 2007 (Körkkö and Prockop, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321227	-	PubMed: Culbert et al., 1995	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Peter Byers
00321228	-	PubMed: Marini et al., 2007 (Byers, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Peter Byers
00321249	-	PubMed: Marini et al., 2007 (Körkkö and Prockop, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321285	-	PubMed: Wu et al., 2014	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321287	-	PubMed: Fertala et al., 1993	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321293	-	PubMed: Mackay et al., 1993	-	-	-	-	-	-	-	-	-	OI, OI2, OI3	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321294	-	PubMed: Marini et al., 2007 (Byers, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI2, OI3	-	COL1A1	COL1A1	1	1	Peter Byers
00321295	-	PubMed: Marini et al., 2007 (Hyland and Prockop, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI2, OI3	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321296	-	-	-	-	-	-	white	-	-	-	-	OI, OI2, OI3	-	COL1A1	COL1A1	1	1	Allan Lund
00321297	-	PubMed: Bodian et al., 2009	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Peter Byers
00321298	-	PubMed: Konstantinidou et al., 2009	At the time of publication, the authors claimed this variant to be novel, though it was not.	-	-	-	-	-	-	-	-	OI, OI2	Osteogenesis imperfecta Type 2, subtype A,	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321299	-	-	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Isabel Mandy Nesbitt
00321300	-	-	-	-	-	-	-	-	-	-	-	OI, OI2, OI3	-	COL1A1	COL1A1	1	1	Sofie Symoens
00321303	-	PubMed: Marini et al., 2007 (Körkkö and Prockop, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321307	-	PubMed: Marini et al., 2007 (Cohn, Krakow and King, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321333	-	PubMed: Paterson et al., 1989	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321334	-	-	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Sofie Symoens
00321336	-	PubMed: Pyott et al., 2011	There was one previously affected infant in this family with lethal OI in which prenatal diagnosis was done by mutation identification.	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Peter Byers
00321343	-	-	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Margherita Maioli
00321345	-	PubMed: Barkova et al., 2014	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321358	-	PubMed: Marini et al., 2007 (Byers, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Peter Byers
00321359	-	PubMed: Bodian et al., 2009	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Peter Byers
00321368	-	PubMed: Marini et al., 2007 (Hyland and Prockop, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321371	-	PubMed: Marini et al., 2007 (Nuytinck and De Paepe, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321372	-	PubMed: Marini et al., 2007 (De Paepe, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321373	-	PubMed: Schönewolf-Greulich et al., 2011	-	-	-	-	white	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Allan Lund
00321381	-	PubMed: Bodian et al., 2009	Father said to have OI type III/IV - wheelchair. Possibly mosaic?	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Peter Byers
00321394	-	PubMed: Marini et al., 2007 (Körkkö and Prockop, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321395	-	PubMed: Marini et al., 2007 (Cohn, Krakow and King, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321396	-	PubMed: Marini et al., 2007 (Cohn, Krakow and King, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321397	-	PubMed: Marini et al., 2007 (Cohn, Krakow and King, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321398	-	PubMed: Marini et al., 2007 (Cohn, Krakow and King, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321399	-	PubMed: Suzumori et al., 2011	The variant in this patient is in COL1A1, not in COL1A2 as reported.	-	-	-	Japanese	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321400	-	PubMed: Byers et al., 1991	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Peter Byers
00321401	-	PubMed: Marini et al., 2007 (Byers, personal communication)	There were two previously affected infants in this family with lethal OI.This patient is referred to as Family 17 in {PMID21239989:Pyott et al., 2011}.	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Peter Byers
00321402	-	-	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Isabel Mandy Nesbitt
00321403	-	PubMed: Lindahl et al., 2015	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Katarina Lindahl
00321405	-	PubMed: Marini et al., 2007 (Byers, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Peter Byers
00321414	-	-	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Margherita Maioli
00321417	-	-	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Margherita Maioli
00321425	-	PubMed: Marini et al., 2007 (Byers, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Peter Byers
00321428	-	PubMed: Barsh et al., 1985; PubMed: Chu et al., 1985	This patient's mutation was determined simultaneously in two independent laboratories and is the first fully characterised COL1A1 mutation.In genomic DNA coordinates, the mutation in this patient is g.12149_12797del	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Peter Byers
00321431	-	PubMed: Bodian et al., 2009	-	-	-	-	German	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Peter Byers
00321433	-	-	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Margherita Maioli
00321439	-	-	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Isabel Mandy Nesbitt
00321440	-	-	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Isabel Mandy Nesbitt
00321449	-	PubMed: Mackay et al., 1993	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321450	-	PubMed: Marini et al., 2007 (Cohn, Krakow and King, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321452	-	-	-	-	-	-	white	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Allan Lund
00321461	-	PubMed: Marini et al., 2007 (Byers, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Peter Byers
00321462	-	PubMed: Raghunath et al., 1994	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321465	-	-	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Isabel Mandy Nesbitt
00321481	-	PubMed: Ji et al., 2019	The technique used was whole exome sequencing.	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321482	-	PubMed: Bodian et al., 2009	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Peter Byers
00321483	-	PubMed: Marini et al., 2007 (Byers, personal communication)	There were two previously affected infants in this family with lethal OI.This patient is referred to as Family 18 in {PMID21239989:Pyott et al., 2011}.	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Peter Byers
00321493	-	PubMed: Lee et al., 2006	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321514	-	-	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Margherita Maioli
00321518	-	PubMed: Cohen-Solal et al., 1996	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321523	-	PubMed: Galicka et al., 2002	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321524	-	PubMed: Marini et al., 2007 (Nuytinck and De Paepe, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321525	-	PubMed: Marini et al., 2007 (Mottes, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321526	-	PubMed: Marini et al., 2007 (Byers, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Peter Byers
00321527	-	-	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Isabel Mandy Nesbitt
00321528	-	-	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Sofie Symoens
00321529	-	PubMed: Fuccio et al., 2011	Although the OI type is not recorded in the publication, the authors have provided this information subsequently.	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321530	-	PubMed: Marini et al., 2007 (Lund, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321531	-	PubMed: Bateman et al., 1987	The technique used was Edman degradation for amino acid sequencing.	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321532	-	-	-	-	-	-	-	-	-	-	-	OI, OI2	-	COL1A1	COL1A1	1	1	Isabel Mandy Nesbitt

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Global Variome shared LOVD