All individuals with variants in gene SERPINF1

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.

95 entries on 1 page. Showing entries 1 - 95.

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
00291645	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	85	Mohammed Faruq
00295529	SERPINF1	-	-	-	-	-	-	-	-	-	-	?	-	1	1	Muhammad Umair
00300379	Fam33	PubMed: Liu 2017	analysis 101 unrelated OI families	-	-	China	-	-	-	-	-	OI	-	2	1	Johan den Dunnen
00300380	Fam34	PubMed: Liu 2017	analysis 101 unrelated OI families	-	-	China	-	-	-	-	-	OI	-	2	1	Johan den Dunnen
00300381	Fam35	PubMed: Liu 2017	analysis 101 unrelated OI families	-	-	China	-	-	-	-	-	OI	-	1	1	Johan den Dunnen
00300434	Fam87	PubMed: Liu 2017	analysis 101 unrelated OI families	-	-	China	-	-	-	-	-	OI	-	1	1	Johan den Dunnen
00304568	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00326414	174848	-	-	M	?	Syria	-	-	-	-	-	OI6	clinically osteogenesis imperfecta, multiple fractures of long tubular bones	1	1	Andreas Laner
00331562	12DG0479 ,12DG0480	PubMed: Maddirevula 2018	family, 2 affected (2M)	M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Recurrent fractures, Kyphosis, Osteopenia, Vertebral compression fractures	1	2	LOVD
00331563	13DG1467	PubMed: Maddirevula 2018	isolated case	F	yes	-	Arab	-	-	-	-	skeletal dysplasia	Recurrent fractures, Delayed gross motor development	1	1	LOVD
00361765	-	-	-	-	-	-	-	-	-	-	-	OI5	Recurrent fractures, microphthalmia Developmental delay	1	1	Anju Shukla
00372914	OI_F6	PubMed: Shaheen 2012	-	-	-	Saudi Arabia	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372915	-	PubMed: Li 2019, Journal: Li 2019	-	-	-	China	-	-	-	-	-	OI	-	1	1	Xiuli Zhao
00372916	P.1	PubMed: Barbirato 2016	-	-	-	Brazil	-	-	-	-	-	OI	-	2	1	Raymond Dalgleish
00372917	-	PubMed: Cho 2013	-	-	-	Korea	-	-	-	-	-	OI	-	2	1	Raymond Dalgleish
00372918	-	PubMed: Li 2019, Journal: Li 2019	-	-	-	China	-	-	-	-	-	OI	-	1	1	Xiuli Zhao
00372919	P.7	PubMed: Barbirato 2016	-	-	-	Brazil	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372920	-	PubMed: Ziff 2016	-	-	-	-	-	-	-	-	-	OTSC	-	1	1	Raymond Dalgleish
00372921	-	PubMed: Ji 2019	-	-	-	-	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372922	Patient 4	PubMed: Wang 2017	The patient in this study was presented again as Family 33 by {PMID28725987:Liu et al., 2017} but with a phenotype of OI III.	-	-	China	-	-	-	-	-	OI	-	2	1	Raymond Dalgleish
00372923	MAA	-	-	-	-	-	-	-	-	-	-	?	-	5	1	Ahmed Khairy Saad
00372924	AN_005837	PubMed: Essawi 2018	-	-	-	Palestine	-	-	-	-	-	OI	-	1	1	Sofie Symoens
00372925	-	PubMed: Li 2019, Journal: Li 2019	-	-	-	China	-	-	-	-	-	OI	-	2	1	Xiuli Zhao
00372926	P47	PubMed: Mrosk 2018	-	-	-	India	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372927	-	PubMed: Li 2019, Journal: Li 2019	-	-	-	China	-	-	-	-	-	OI	-	2	1	Xiuli Zhao
00372928	-	PubMed: Li 2019, Journal: Li 2019	-	-	-	China	-	-	-	-	-	OI	-	1	1	Xiuli Zhao
00372929	-	PubMed: Tucker 2012	-	-	-	-	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372930	Patient 3	PubMed: Rauch 2012	This patient was previously described in PubMed: Glorieux et al., 2002 as Patient 3. This patient is described as Individual T11 by {PMID25086671:Rauch et al., 2014}.	-	-	France;Ireland	French-Canadian	-	-	-	-	OI	-	2	1	Raymond Dalgleish
00372931	Patient 4	PubMed: Rauch 2012	This patient was previously described in PubMed: Glorieux et al., 2002 as Patient 4.	-	-	Nicaragua	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372932	Patient 7	PubMed: Rauch 2012	This patient was previously described in PubMed: Glorieux et al., 2002 as Patient 7. Only one SEPRPINF1 sequence variant has been identified for this patient.	-	-	Germany;Poland	-	-	-	-	-	?	-	1	1	Raymond Dalgleish
00372933	Patient 1	PubMed: Wang 2017	The probands mother was confirmed to harbour the sequence variant, but the variant was not detected in the fathers DNA. Possible explanations include non-paternity or that the father is mosaic for the variant.	-	-	China	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372934	No. 72	PubMed: Caparros-Martin 2016	-	-	-	Spain	-	-	-	-	-	OI	-	2	1	Raymond Dalgleish
00372935	No. 67	PubMed: Caparros-Martin 2016	-	-	-	Egypt	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372936	-	PubMed: Li 2019, Journal: Li 2019	-	-	-	China	-	-	-	-	-	OI	-	1	1	Xiuli Zhao
00372937	P21	PubMed: Mrosk 2018	-	-	-	India	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372938	Patient 2	PubMed: Wang 2017	-	-	-	China	-	-	-	-	-	OI	-	2	1	Raymond Dalgleish
00372939	Family 2	PubMed: Zhang 2018	-	-	-	China	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372940	Patient IV-3	PubMed: Homan 2011	-	-	-	France	French-Canadian	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372941	Patient 5	PubMed: Rauch 2012	This patient was previously described in PubMed: Glorieux et al., 2002 as Patient 5.	-	-	France;Germany	French-Canadian	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372942	Patient 11	PubMed: Rauch 2012	-	-	-	France	French-Canadian	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372943	Patient 3	PubMed: Becker 2011	SDS-PAGE analysis of collagen types I, III and V for this patient showed normal migration.; This individual was also presented as Patient 1 by {PMID25257953:Hoyer-Kuhn et al., 2014}.	-	-	Turkey	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372944	-	PubMed: Ziff 2016	-	-	-	-	-	-	-	-	-	OTSC	-	1	1	Raymond Dalgleish
00372945	-	PubMed: Ziff 2016	A subsequent study, {PMID30968248:Valgaeren et al., 2019}, demonstrates that variant detected in this patient is not pathogenic.	-	-	-	-	-	-	-	-	OTSC	-	1	1	Raymond Dalgleish
00372946	Patient 5	PubMed: Wang 2017	The probands younger sibling (Patient 6) also harbours the same c.397C>T variant. A second variant has not been identified in this family.	-	-	China	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372947	-	PubMed: Venturi 2011	-	-	yes	Italy;Sweden;France	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372948	-	PubMed: Jin 2018	-	-	-	-	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372949	Patient 8	PubMed: Rauch 2012	The patients brother (Patient 9) is also homozygous for this deletion.	-	-	Ecuador	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372950	-	PubMed: Ziff 2016	-	-	-	-	-	-	-	-	-	OTSC	-	1	1	Raymond Dalgleish
00372951	3090	-	-	-	-	-	-	-	-	-	-	OI	-	2	1	Ahmed Khairy Saad
00372952	-	PubMed: Rauch 2014	The precise end points of the exon 5 deletion are not defined.	-	-	-	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372953	-	PubMed: Ziff 2016	-	-	-	-	-	-	-	-	-	OTSC	-	1	1	Raymond Dalgleish
00372954	-	PubMed: Ziff 2016	-	-	-	-	-	-	-	-	-	OTSC	-	1	1	Raymond Dalgleish
00372955	Patient 4	PubMed: Stephen 2015	The patient has one affected sister and the parents are consanguineous and confirmed to be heterozygous for the variant.	-	-	India	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372956	-	PubMed: Al-Jallad 2014	-	-	-	-	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372957	-	PubMed: Ziff 2016	Patient ID OTSC134 corresponds to Family B. ; The reported variant in this patient lies in the 5´UTR of an alternative transcript (ENST00000573763.1) which is the major transcript in stapes bone. The substitution (c.-1G>A) results in altered expression of that transcript.	-	-	-	Europe;Caribbean	-	-	-	-	OTSC	-	1	1	Raymond Dalgleish
00372958	OI 18	PubMed: Mohd Nawawi 2018	SERPINF1 sequence variants are normally recessive. The single variant in this patient probably does not account alone for the OI phenotype.	-	-	Malaysia	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372959	P.8	PubMed: Barbirato 2016	-	-	-	Brazil	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372960	P.9	PubMed: Barbirato 2016	-	-	-	Brazil	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372961	P.10	PubMed: Barbirato 2016	-	-	-	Brazil	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372962	P4	PubMed: Mrosk 2018	-	-	-	India	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372963	Family 9	PubMed: Caparrós-Martin 2013	-	-	-	Egypt	-	-	-	-	-	OI	-	1	1	Victor L Ruiz-Perez
00372964	Family 10	PubMed: Caparrós-Martin 2013	-	-	-	Egypt	-	-	-	-	-	OI	-	1	1	Victor L Ruiz-Perez
00372965	3206	-	-	-	-	-	-	-	-	-	-	OI	-	1	1	Ahmed Khairy Saad
00372966	3398	-	-	-	-	-	-	-	-	-	-	OI	-	1	1	Ahmed Khairy Saad
00372967	OI_F12	PubMed: Shaheen 2012	-	-	-	Saudi Arabia	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372968	Patient 1	PubMed: Becker 2011	The proband also has an older brother (Patient 2) who is homozygous for the same variant and has OI III. Both parents (second cousins) and both sisters are heterozygous for the variant and unaffected.; This individual was also presented as Patient 3, and the sibling as Patient 4, by {PMID25257953:Hoyer-Kuhn et al., 2014}.	-	-	-	Arab	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372969	Fam8Pat9	PubMed: Caparrós-Martin 2013	younger brother (patient 10, AN_002120) is also homozygous for this variant.	-	-	Egypt	-	-	-	-	-	OI	-	1	1	Victor L Ruiz-Perez
00372970	No. 69	PubMed: Caparros-Martin 2016	-	-	-	Egypt	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372971	Individual 1	PubMed: Ward 2016	-	-	-	Canada	Canada-N	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372972	Individual 2	PubMed: Ward 2016	-	-	-	Canada	Canada-N	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372973	-	PubMed: Al-Jallad 2014	-	-	-	-	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372974	Patient 12	PubMed: Rauch 2012	-	-	-	Nepal	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372975	Patient 5	PubMed: Stephen 2015	The patient has three affected brothers and the parents are consanguineous and confirmed to be heterozygous for the variant.	-	-	India	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372976	-	PubMed: Li 2019, Journal: Li 2019	-	-	-	China	-	-	-	-	-	OI	-	1	1	Xiuli Zhao
00372977	P41	PubMed: Mrosk 2018	-	-	-	India	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372978	-	PubMed: Li 2019, Journal: Li 2019	-	-	-	China	-	-	-	-	-	OI	-	1	1	Xiuli Zhao
00372979	Family 1	PubMed: Zhang 2018	The patient appears superficially to have a homozygous sequence variant. However, whilst the patients father was heterozygous for the variant, the mother and the patient appear to have an undefined deletion of the SERPINF1 gene.;	-	-	China	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372980	Proband 1	PubMed: Zhang 2018	The proband appears to be homozygous for the variant, but sequence analysis of the probands mother shows that she is not a carrier of the sequence variant, but has an undefined deletion of the SERPINF1 gene for which the proband is heterozygous.	-	-	China	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372981	No. 301	PubMed: Caparros-Martin 2016	-	-	-	Egypt	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372982	No. 93	PubMed: Caparros-Martin 2016	-	-	-	Egypt	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372983	OI_F5	PubMed: Shaheen 2012	-	-	-	Saudi Arabia	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372984	Patient 4	PubMed: Becker 2011	This individual was also presented as Patient 2 by {PMID25257953:Hoyer-Kuhn et al., 2014}.	-	-	Turkey	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372985	Family 1 IX-2	PubMed: Minillo 2014	-	-	-	Brazil	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372986	Family 2 III-6	PubMed: Minillo 2014	-	-	-	Brazil	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372987	-	PubMed: Homan 2011	-	-	-	Italy	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372988	Patient 3	PubMed: Wang 2017	-	-	-	China	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372989	P 1	-	-	-	-	-	-	-	-	-	-	OI	-	1	1	Ahmed Khairy Saad
00410180	Pat3	PubMed: Kuptanon 2022, Journal: Kuptanon 2022	-	M	no	Thailand	-	-	-	-	-	OI6	no Dentinogenesis imperfecta (-HP:0000703), no Blue sclerae (-HP:0000592), Short stature (HP:0004322)	1	1	Thanakorn Theerapanon
00431358	Pat1	PubMed: Fernandes 2020	-	?	no	Brazil	-	>15y	-	-	-	OI	Abnormal facial shape, club feet, lower leg bowing, developmental delay, generalized osteopenia, white sclerae.	1	1	Kim Worring
00435097	Pat1	PubMed: Zhalsanova 2023	-	M	no	Russia	Tuva nationality	>01y	-	-	-	OI6	-	1	1	Kim Worring
00466815	Pat102	PubMed: Tuysuz 2022	-	-	-	Turkey	-	-	-	-	-	OI	OI3 progressively deforming osteogenesis imperfecta	1	1	Johan den Dunnen
00466816	Pat103	PubMed: Tuysuz 2022	-	-	-	Turkey	-	-	-	-	-	OI	OI3 progressively deforming osteogenesis imperfecta	1	1	Johan den Dunnen
00466817	Pat104	PubMed: Tuysuz 2022	-	-	-	Turkey	-	-	-	-	-	OI	OI3 progressively deforming osteogenesis imperfecta	1	1	Johan den Dunnen
00466818	Pat105	PubMed: Tuysuz 2022	-	-	-	Turkey	-	-	-	-	-	OI	OI3 progressively deforming osteogenesis imperfecta	1	1	Johan den Dunnen
00466819	Pat106	PubMed: Tuysuz 2022	-	-	-	Turkey	-	-	-	-	-	OI	OI3 progressively deforming osteogenesis imperfecta	1	1	Johan den Dunnen

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Global Variome shared LOVD

SERPINF1 (serpin family F member 1)