All individuals with variants in gene IFITM5

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.

79 entries on 1 page. Showing entries 1 - 79.

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
00299981	-	PubMed: Higuchi 2021, Journal: Higuchi 2021	-	F	-	Japan	Japanese	-	-	-	-	OI	OI-5; no blue sclera (-HP:0000592); no dentinogenesis imperfecta (-HP:0000703); no deafness (-HP:0000365); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)	1	1	Yousuke Higuchi
00300424	Fam77	PubMed: Liu 2017	analysis 101 unrelated OI families	F	-	China	-	-	-	-	-	OI	-	1	1	Johan den Dunnen
00300425	Fam78	PubMed: Liu 2017	analysis 101 unrelated OI families	F	-	China	-	-	-	-	-	OI	-	1	1	Johan den Dunnen
00300426	Fam79	PubMed: Liu 2017	analysis 101 unrelated OI families	F	-	China	-	-	-	-	-	OI	-	1	1	Johan den Dunnen
00300427	Fam80	PubMed: Liu 2017	analysis 101 unrelated OI families	M	-	China	-	-	-	-	-	OI	-	1	1	Johan den Dunnen
00300428	Fam81	PubMed: Liu 2017	analysis 101 unrelated OI families	F	-	China	-	-	-	-	-	OI	-	1	1	Johan den Dunnen
00300429	Fam82	PubMed: Liu 2017	analysis 101 unrelated OI families	F	-	China	-	-	-	-	-	OI	-	1	1	Johan den Dunnen
00300430	Fam83	PubMed: Liu 2017	analysis 101 unrelated OI families	M	-	China	-	-	-	-	-	OI	-	1	1	Johan den Dunnen
00300431	Fam84	PubMed: Liu 2017	analysis 101 unrelated OI families	M	-	China	-	-	-	-	-	OI	-	1	1	Johan den Dunnen
00300432	Fam85	PubMed: Liu 2017	analysis 101 unrelated OI families	F	-	China	-	-	-	-	-	OI	-	1	1	Johan den Dunnen
00327449	B34	PubMed: Demir 2021	analysis 43 OI patients	M	-	Turkey	-	-	-	-	-	OI	-	1	1	Johan den Dunnen
00327450	B35	PubMed: Demir 2021	analysis 43 OI patients	M	-	Turkey	-	-	-	-	-	OI	-	1	1	Johan den Dunnen
00331486	13DG1119	PubMed: Maddirevula 2018	isolated case	M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Recurrent fractures	1	1	LOVD
00331487	10DG2178	PubMed: Maddirevula 2018	isolated case	F	yes	-	Arab	-	-	-	-	skeletal dysplasia	Recurrent fractures, Osteopenia, Scoliosis	1	1	LOVD
00373113	Proband 1	PubMed: Semler 2012	-	-	-	-	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373114	Proband 2	PubMed: Semler 2012	-	-	-	-	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373115	Family 1 V:1	PubMed: Cho 2012	This patient was subsequently presented again as Patient 1 by {PMID23804581:Kim et al., 2013} and previously as case 12 by PubMed: Lee et al. 2006.	-	-	Korea	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373116	Family 2 III:1	PubMed: Cho 2012	This patient was subsequently presented again as Patient 4 by {PMID23804581:Kim et al., 2013} and previously as case 3 by PubMed: Lee et al. 2006.	-	-	Korea	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373117	Family 3 III:1	PubMed: Cho 2012	This patient was subsequently presented again as Patient 3 by {PMID23804581:Kim et al., 2013}.	-	-	Korea	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373118	Family 4 II:1	PubMed: Cho 2012	-	-	-	Korea	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373119	Family 5 II:1	PubMed: Cho 2012	-	-	-	Korea	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373120	Family 6 II:1	PubMed: Cho 2012	-	-	-	Korea	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373121	Family 7 II:1	PubMed: Cho 2012	-	-	-	Korea	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373122	Family 8 II:1	PubMed: Cho 2012	-	-	-	Korea	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373123	Family 9 II:1	PubMed: Cho 2012	-	-	-	Korea	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373124	Patient 1	PubMed: Balasubramanian 2013	The patients daughter (Patient 2) also harbours the same variant.	-	-	-	Europe	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373125	Patient 3	PubMed: Balasubramanian 2013	-	-	-	-	Europe	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373126	Patient 4	PubMed: Balasubramanian 2013	-	-	-	-	Europe	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373127	-	PubMed: Grover 2013	This patient is the first described having the recurrent OI type V sequence variant but with a different OI type.	-	-	-	Hispanic	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373128	Patient 1	PubMed: Takagi 2013	-	-	-	Japan	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373129	Patient 2	PubMed: Takagi 2013	-	-	-	Japan	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373130	Patient 5	PubMed: Kim 2013	Patient 9 is related to this patient and also harbours the same variant.	-	-	Japan	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373131	Patient 10	PubMed: Kim 2013	-	-	-	Korea	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373132	Patient 11	PubMed: Kim 2013	-	-	-	Korea	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373133	Patient 12	PubMed: Kim 2013	-	-	-	Korea	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373134	Patient 13	PubMed: Kim 2013	-	-	-	Korea	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373135	Patient 14	PubMed: Kim 2013	-	-	-	Korea	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373136	Patient 15	PubMed: Kim 2013	-	-	-	Korea	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373137	Patient 16	PubMed: Kim 2013	-	-	-	Korea	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373138	F1-II1	PubMed: Zhang 2013	The probands mother also has OI V.	-	-	China	Han	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373139	F2	PubMed: Zhang 2013	-	-	-	China	Han	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373140	F3	PubMed: Zhang 2013	-	-	-	China	Han	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373141	F4	PubMed: Zhang 2013	-	-	-	China	Han	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373142	-	PubMed: Guillén-Navarro 2014	This is Patient 2 as described in the paper	-	-	Lithuania	-	-	-	-	-	OI	-	1	1	Victor L Ruiz-Perez
00373143	-	PubMed: Rauch 2014	-	-	-	-	-	-	-	-	-	?	-	1	1	Raymond Dalgleish
00373144	-	PubMed: Lazarus 2014	-	-	-	-	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373145	-	PubMed: Lazarus 2014	-	-	-	-	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373146	-	PubMed: Lazarus 2014	-	-	-	-	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373147	-	PubMed: Lazarus 2014	-	-	-	-	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373148	-	PubMed: Lazarus 2014	Presence of mRNA carrying the variant was shown by RT-PCR and sequencing of RNA from bone.	-	-	-	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373149	-	PubMed: Lazarus 2014	-	-	-	-	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373150	-	PubMed: Lazarus 2014	-	-	-	-	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373151	-	PubMed: Lazarus 2014	The patients son (individual 185.4) also harbours the same variant and has OI type V.	-	-	-	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373152	-	PubMed: Li 2019, Journal: Li 2019	-	-	-	China	-	-	-	-	-	OI	-	1	1	Xiuli Zhao
00373153	-	PubMed: Li 2019, Journal: Li 2019	-	-	-	China	-	-	-	-	-	OI	-	1	1	Xiuli Zhao
00373154	-	PubMed: Li 2019, Journal: Li 2019	-	-	-	China	-	-	-	-	-	OI	-	1	1	Xiuli Zhao
00373155	-	PubMed: Li 2019, Journal: Li 2019	-	-	-	China	-	-	-	-	-	OI	-	1	1	Xiuli Zhao
00373156	-	PubMed: Li 2019, Journal: Li 2019	-	-	-	China	-	-	-	-	-	OI	-	1	1	Xiuli Zhao
00373157	-	PubMed: Li 2019, Journal: Li 2019	-	-	-	China	-	-	-	-	-	OI	-	1	1	Xiuli Zhao
00373158	-	PubMed: Li 2019, Journal: Li 2019	-	-	-	China	-	-	-	-	-	OI	-	1	1	Xiuli Zhao
00373159	-	PubMed: Li 2019, Journal: Li 2019	-	-	-	China	-	-	-	-	-	OI	-	1	1	Xiuli Zhao
00373160	-	PubMed: Li 2019, Journal: Li 2019	-	-	-	China	-	-	-	-	-	OI	-	1	1	Xiuli Zhao
00373161	-	PubMed: Li 2019, Journal: Li 2019	-	-	-	China	-	-	-	-	-	OI	-	1	1	Xiuli Zhao
00373162	-	PubMed: Guillén-Navarro 2014	This is Patient 1 as described in the paper	-	-	Spain	-	-	-	-	-	OI	-	1	1	Victor L Ruiz-Perez
00373163	-	PubMed: Hoyer-Kuhn 2014	The OI phenotype is described by the authors as severe.	-	-	-	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373164	-	PubMed: Farber 2014	-	-	-	-	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373165	-	PubMed: He 2017	The pregnancy was terminated at 20 weeks due to poor prognosis.	-	-	China	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373166	Case 9	PubMed: Chandler 2018	-	-	-	-	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373167	-	PubMed: Rodriguez Celin 2018	The proband is described as having severe OI.	-	-	Argentina	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373168	-	PubMed: Lim 2019	The probands mother is mosaic for the sequence variant. A second pregnancy was terminated because of multiple prenatal fractures.	-	-	-	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373169	OI 26	PubMed: Nawawi 2019	-	-	-	Malaysia	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00431388	patient	PubMed: Wu 2020	-	F	no	China	-	>00y	-	-	-	OI5	-	1	1	Kim Worring
00431420	Pat1	PubMed: Whyte 2020	-	M	no	United States	-	>29y	-	-	-	OI5	-	1	1	Kim Worring
00431421	Pat2	PubMed: Whyte 2020	-	F	?	United States	-	51y	-	-	-	OI5	-	1	1	Kim Worring
00431427	patient	PubMed: Deng 2021	-	M	no	China	Han	>14y	-	-	pamidronate, zoledronate, vitamin A, vitamin D, calcium	OI5	-	1	1	Kim Worring
00432478	Pat41	PubMed: Nadyrshina 2022	-	F	?	Russia	-	>26y	-	-	-	OI5	-	1	1	Kim Worring
00432479	Pat42	PubMed: Nadyrshina 2022	-	M	?	Russia	-	>10y	-	-	-	OI5	-	1	1	Kim Worring
00434127	Pat40	PubMed: Nadyrshina 2022	-	F	?	Russia	-	>27y	-	-	-	OI5	-	1	1	Kim Worring
00466825	Pat112	PubMed: Tuysuz 2022	-	-	-	Turkey	-	-	-	-	-	OI	-	1	1	Johan den Dunnen

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How to query

Global Variome shared LOVD

IFITM5 (interferon induced transmembrane protein 5)