Disease #00636 (OI3 (osteogenesis imperfecta, type III (OI3)), OMIM:259420)

Official abbreviation	OI3
Name	osteogenesis imperfecta, type III (OI3)
OMIM ID	259420
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	725
Phenotype entries for this disease	17
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 21:55:28 +02:00 (CEST)

Individuals

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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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!	Date	!2020-03	all entries not matching March, 2020
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<=	Date	<=2020-06	all entries in or before June, 2020
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Example	Matches
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725 entries on 8 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6	7	8		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
00080921	-	PubMed: Trujillano 2017	unaffected non-carrier parents	-	-	-	-	-	-	-	-	OI3	Osteogenesis imperfecta, type III (OMIM:259420)	COL1A2	COL1A2	1	1	Daniel Trujillano
00132062	2	-	-	F	no	Brazil	-	-	-	-	-	OI3	-	COL1A1, COL1A2	COL1A2	1	1	Karina Silveira
00132063	Pat33	PubMed: Silveira 2021, Journal: Silveira 2021	-	F	?	Brazil	-	-	-	-	-	OI3	-	COL1A1, COL1A2	COL1A2	1	1	Karina Silveira
00320490	-	PubMed: Li 2019, Journal: Li 2019	-	-	-	China	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Xiuli Zhao
00320493	-	PubMed: Lindahl et al., 2015	-	-	-	-	Swedish	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Katarina Lindahl
00320504	-	PubMed: Jaleč et al., 2019	The patient's sequence variant is not reported in the published account but was supplied to the database by the authors.The c.2235+1G>A splice site variant is the primary cause of the OI phenotype. The c.104-441G>T variant lies in within the binding site of the transcription factor SP1 and can be considered as a functional SNP that results in reduced BMD.The technique used was the custom Gene panel	-	-	-	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	2	1	Raymond Dalgleish
00320522	-	PubMed: Li 2019, Journal: Li 2019	-	-	-	China	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	2	1	Xiuli Zhao
00320527	-	PubMed: Hruskova et al., 2016	-	-	-	-	Czech	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320542	-	-	-	-	-	-	-	-	-	-	-	OI, OI3, OI4	-	COL1A1	COL1A1	1	1	Isabel Mandy Nesbitt
00320635	-	-	-	-	-	-	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Margherita Maioli
00320684	-	PubMed: Caparros-Martin et al., 2016	The technique used was whole exome sequencing.	-	-	-	Spanish	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320715	-	PubMed: Mohd Nawawi et al., 2018	The technique used was the custom Gene panel	-	-	-	Malaysian	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320717	-	PubMed: Marini et al., 2007 (Byers, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI3, OI4	-	COL1A1	COL1A1	1	1	Peter Byers
00320723	-	PubMed: Marini et al., 2007 (De Paepe, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320727	-	PubMed: Venturi et al., 2006	-	-	-	-	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320728	-	-	-	-	-	-	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Isabel Mandy Nesbitt
00320733	-	PubMed: Trancozo et al., 2019	-	-	-	-	Brazilian	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320747	-	PubMed: Li 2019, Journal: Li 2019	-	-	-	China	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Xiuli Zhao
00320753	-	PubMed: Ho Duy et al., 2016	The reported variant in this patient is not consistent with a phenotype of OI III. In addition, the reported protein alteration of p.Glu210Aspfs*3 is incorrect.	-	-	-	Vietnamese	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320754	-	PubMed: Cabral et al., 2005	-	-	-	-	-	-	-	-	-	OI, OI3, OI4	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320759	-	PubMed: Marini et al., 2007 (Roughley and Glorieux, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320766	-	PubMed: Stephen et al., 2014	-	-	-	-	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320805	-	PubMed: Li 2019, Journal: Li 2019	-	-	-	China	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Xiuli Zhao
00320809	-	-	-	-	-	-	-	-	-	-	-	OI, OI3, OI4	-	COL1A1	COL1A1	1	1	Margherita Maioli
00320831	-	PubMed: Marini et al., 2007	-	-	-	-	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Sofie Symoens
00320832	UA33	PubMed: Zhytnik 2019	-	-	-	Ukraine	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Lidiia Zhytnik
00320833	-	-	-	-	-	-	white	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Peter Roughley
00320837	-	PubMed: Li 2019, Journal: Li 2019	-	-	-	China	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Xiuli Zhao
00320838	-	PubMed: Li 2019, Journal: Li 2019	-	-	-	China	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Xiuli Zhao
00320846	-	PubMed: Stephen et al., 2014	-	-	-	-	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320858	-	-	-	-	-	-	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Margherita Maioli
00320862	-	PubMed: Marini et al., 2007 (Mottes, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI2, OI3	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320863	-	PubMed: Cabral et al., 2001	The technique used was ribonuclease A analysis (RNaseA).	-	-	-	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320864	-	PubMed: Cabral et al., 2005	-	-	-	-	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320869	OI-36	PubMed: Benušiené and Kucinskas, 2003	-	-	-	-	Lithuanian	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320900	-	-	-	-	-	-	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Margherita Maioli
00320912	-	-	-	-	-	-	white	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Peter Roughley
00320917	-	PubMed: Cabral et al., 2005	-	-	-	-	-	-	-	-	-	OI, OI3, OI4	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320924	-	PubMed: Fuccio et al., 2011	The deletion is described as resulting in defective splicing.Although the OI type is not recorded in the publication, the authors have provided this information subsequently.	-	-	-	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320925	-	PubMed: Ward et al., 2001	-	-	-	-	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320926	-	PubMed: Marini et al., 2007 (Roughley and Glorieux, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320927	-	-	-	-	-	-	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Margherita Maioli
00320930	-	PubMed: Marini et al., 2007 (De Paepe, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI3, OI4	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320942	-	PubMed: Li 2019, Journal: Li 2019	-	-	-	China	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Xiuli Zhao
00320945	-	-	-	-	-	-	-	-	-	-	-	OI, OI3, OI4	-	COL1A1	COL1A1	1	1	Isabel Mandy Nesbitt
00320950	-	PubMed: Marini et al., 2007 (Byers, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Peter Byers
00320961	-	PubMed: Zhang et al., 2011	-	-	-	-	Han Chinese	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320963	-	PubMed: Venturi et al., 2006	-	-	-	-	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320969	-	-	-	-	-	-	-	-	-	-	-	OI, OI2, OI3	-	COL1A1	COL1A1	1	1	Sofie Symoens
00320974	-	PubMed: Kaneto et al., 2014	The variant in this patient is incorrectly reported by the authors in Figure 1 and in Table 1.	-	-	-	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320975	-	PubMed: Lin et al., 2015	-	-	-	-	Taiwanese	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320979	-	PubMed: Li 2019, Journal: Li 2019	-	-	-	China	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Xiuli Zhao
00320980	-	PubMed: Marini et al., 2007 (Marini and Cabral, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320981	-	-	-	-	-	-	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Sofie Symoens
00320996	-	PubMed: Marini et al., 2007 (De Paepe, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI3, OI4	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321001	-	PubMed: Marini et al., 2007 (Byers, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Peter Byers
00321002	-	PubMed: Marini et al., 2007 (Byers, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Peter Byers
00321003	-	PubMed: Ho Duy et al., 2016	-	-	-	-	Vietnamese	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321018	-	PubMed: Marini et al., 2007 (Byers, personal communication)	Skips exon 15 (minor).	-	-	-	-	-	-	-	-	OI, OI3, OI4	-	COL1A1	COL1A1	1	1	Peter Byers
00321026	-	PubMed: Li 2019, Journal: Li 2019	-	-	-	China	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Xiuli Zhao
00321029	-	PubMed: Marini et al., 2007 (Byers, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Peter Byers
00321031	-	PubMed: Marini et al., 2007 (Byers, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Peter Byers
00321035	-	PubMed: Marini et al., 2007 (Roughley and Glorieux, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321041	-	-	-	-	-	-	Hispanic	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Peter Roughley
00321042	-	PubMed: Pruchno et al., 1991	-	-	-	-	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Peter Byers
00321043	-	PubMed: Pruchno et al., 1991	-	-	-	-	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Peter Byers
00321045	-	PubMed: Marini et al., 2007 (Byers, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI3, OI4	-	COL1A1	COL1A1	1	1	Peter Byers
00321046	-	PubMed: Marini et al., 2007 (Byers, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Peter Byers
00321047	-	PubMed: Marini et al., 2007 (Byers, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Peter Byers
00321048	-	PubMed: Marini et al., 2007 (Körkkö and Prockop, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI3, OI4	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321050	-	-	-	-	-	-	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Isabel Mandy Nesbitt
00321051	-	PubMed: Lindahl et al., 2015	-	-	-	-	Swedish	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Katarina Lindahl
00321053	-	-	-	-	-	-	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Margherita Maioli
00321058	-	Krakow et al. 1996 {Localkrakow_et_al_1996.pdf:View abstract}	-	-	-	-	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321064	-	PubMed: Bardai et al.,2016	The technique used was the custom NGS Gene panel.	-	-	-	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Ghalib Bardai, Patrizia Mason
00321075	-	PubMed: Stephen et al., 2014	-	-	-	-	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321077	-	PubMed: Lin et al., 2015	-	-	-	-	Taiwanese	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321082	-	PubMed: Bardai et al.,2016	-	-	-	-	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Ghalib Bardai, Patrizia Mason
00321085	-	PubMed: Mackay et al., 1994	-	-	-	-	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321086	-	PubMed: Marini et al., 2007 (De Paepe, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321090	-	PubMed: Stephen et al., 2014	-	-	-	-	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321091	-	-	-	-	-	-	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Margherita Maioli
00321098	-	PubMed: Marini et al., 2007 (Körkkö and Prockop, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321102	-	-	-	-	-	-	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Margherita Maioli
00321103	-	PubMed: Wirtz et al., 1993	The technique used was Edman degradation for amino acid sequencing.	-	-	-	-	-	-	-	-	OI, OI3, OI4	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321108	-	PubMed: Li 2019, Journal: Li 2019	-	-	-	China	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Xiuli Zhao
00321109	-	PubMed: Li 2019, Journal: Li 2019	-	-	-	China	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Xiuli Zhao
00321113	-	PubMed: Ho Duy et al., 2016	The reported single-base deletion in this patient is not consistent with a phenotype of OI III. In addition, the protein alteration is incorrectly reported as p.(Glu358Lysfs*26).	-	-	-	Vietnamese	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321132	-	PubMed: Li 2019, Journal: Li 2019	-	-	-	China	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Xiuli Zhao
00321133	-	PubMed: Marini et al., 2007 (Marini and Cabral, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI3, OI4	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321139	-	PubMed: Marini et al., 2007 (Hyland and Prockop, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI2, OI3	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321140	-	PubMed: Stephen et al., 2014	Patient 9 in {PMID24668929:Stephen et al., 2014}. de novo mutation	-	-	-	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Joshi Stephen
00321145	-	PubMed: Marini et al., 2007 (Marini and Moriarty, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321146	-	PubMed: Zhang et al., 2011	-	-	-	-	Han Chinese	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321147	-	PubMed: Brizola et al., 2015	The patient exhibits bulbous epiphyses and popcorn calcification. The COL1A2 variant is of unknown significance.	-	-	-	Asian ethnicity	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321148	-	-	-	-	-	-	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Isabel Mandy Nesbitt
00321149	-	PubMed: Stephen et al., 2014	do novo mutationThe DNA-level variant description is incorrect in {PMID24668929:Stephen et al., 2014}.	-	-	-	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00321174	-	PubMed: Marini et al., 2007 (Byers, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI3, OI4	-	COL1A1	COL1A1	1	1	Peter Byers
00321175	-	PubMed: Stephen et al., 2014	This is patient 17 in the study by {PMID24668929:Stephen et al., 2014}.	-	-	-	-	-	-	-	-	OI, OI3	-	COL1A1	COL1A1	1	1	Joshi Stephen
00321181	-	PubMed: Marini et al., 2007 (Hyland and Prockop, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI2, OI3	-	COL1A1	COL1A1	1	1	Raymond Dalgleish

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Global Variome shared LOVD

IFI30 (interferon, gamma-inducible protein 30)