All individuals with variants in gene FKBP10

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.

167 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	Variants	Panel size	Owner
00291707	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	176	Mohammed Faruq
00291708	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	48	Mohammed Faruq
00291709	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	3	Mohammed Faruq
00300317	Fam1Case1	PubMed: Puig-Hervas 2012	2-generation family, 1 affected, second cousin parents	M	yes	Egypt	-	-	-	-	-	OI	onset fractures 4m; 4 fractures left femur; 1d-contracture both knees and elbows; pterygium both elbows and knees (antecubital and popliteal); short chest with pectus carinatum; kyphosis; white sclera; high arched palate, deep over bite; no hearing impairment; Keloid formation at both elbows from crawling, small umbilical hernia; bilateral clinodactyly 4th finger; delayed gross motor development, 6y-not able to walk; 5y10m-weight 16 kg (-1.9SD), length 97.0 cm (-3.0SD), OFC 52 cm (mean); Wormian bones skull; decreased bone density, bowing leg bones, patchy sclerotic areas increased bone girth in lower aspect left femoral shaft due to old healed fracture, fracture line traversing mid shaft left tibia associated with periosteal reaction and callus formation.; 5y10m-osteoporosis femur (Z-score: -4.16), normal spine (Z-score:-0.23)	1	1	Johan den Dunnen
00300318	Fam2Case2	PubMed: Puig-Hervas 2012	2-generation family, affected twin sisters, first cousin parents	F	yes	Egypt	-	-	-	-	-	OI	onset fractures birth; 8 fractures forearm and femora; 1d-contracture both knees with dimples over the lateral side both knees, bilateral talipes; pterygium both knees; pectus carinatum; scoliosis; faint blue sclera (likee the mother); high arched palate; no hearing impairment; unilateral simian crease; bilateral bowing femora, bilateral clasped thumbs; delayed gross motor development, 18m-no unsupported sitting, 16m-crawling; 3m-weight 4.4 kg (-1.8SD), length 55.0 cm (-2.0SD), OFC 36.8 cm (-2.0SD); 11m-weight 7.5 kg (-3.0SD), length 67.0 cm (-3.5SD), OFC 41.9 cm (-3.0SD); Wormian bones skull; multiple old fractures different sites long bones and ribs, wedging vertebral aspect L3, bowing femora, tibiae and fibulae, fracture mid shaft femur with callus formation, good bone modelling; 9m-borderline osteoporosis femur (Z-score: -1.85), osteopenia spine (Z-score: -1.18)	1	2	Johan den Dunnen
00300326	Fam1Pat1	PubMed: Zhou 2014	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	China	-	-	-	-	-	OI	see paper; ...	2	1	Johan den Dunnen
00300345	Case3	PubMed: Santana 2019	-	M	-	United States	-	-	-	-	-	OI	see paper; ...	1	1	Johan den Dunnen
00300376	Fam30	PubMed: Liu 2017	analysis 101 unrelated OI families	-	-	China	-	-	-	-	-	OI	-	2	1	Johan den Dunnen
00300377	Fam31	PubMed: Liu 2017	analysis 101 unrelated OI families	-	-	China	-	-	-	-	-	OI	-	2	1	Johan den Dunnen
00300433	Fam86	PubMed: Liu 2017	analysis 101 unrelated OI families	F	-	China	-	-	-	-	-	OI	-	1	1	Johan den Dunnen
00304576	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	4	Mohammed Faruq
00327451	B36	PubMed: Demir 2021	analysis 43 OI patients	M	-	Turkey	-	-	-	-	-	OI	-	1	1	Johan den Dunnen
00327452	B37	PubMed: Demir 2021	analysis 43 OI patients	F	-	Turkey	-	-	-	-	-	OI	-	1	1	Johan den Dunnen
00327453	B38	PubMed: Demir 2021	analysis 43 OI patients	F	-	Turkey	-	-	-	-	-	OI	-	1	1	Johan den Dunnen
00331449	13DG0272	PubMed: Maddirevula 2018	family	M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Recurrent fractures	1	1	LOVD
00331450	09DG01090, 09DG01091	PubMed: Maddirevula 2018	family, 2 affected (2M)	M	-	-	Arab	-	-	-	-	skeletal dysplasia	Limb joint contracture, Osteopenia, Wormian bones, Fractures of the long bones	1	2	LOVD
00331451	10DG1368	PubMed: Maddirevula 2018	family	M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Multiple prenatal fractures, Osteopenia, Scoliosis, Wormian bones	1	1	LOVD
00331452	11DG0234	PubMed: Maddirevula 2018	isolated case	F	yes	-	Arab	-	-	-	-	skeletal dysplasia	Kyphosis, Spinal cord compression, Recurrent fractures, Brachycephaly, Kyphoscoliosis, ArYes	1	1	LOVD
00331453	11DG2194	PubMed: Maddirevula 2018	isolated case	F	yes	-	Arab	-	-	-	-	skeletal dysplasia	Osteopenia , Recurrent fractures	1	1	LOVD
00331454	14DG0651	PubMed: Maddirevula 2018	isolated case	M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Osteopenia , Recurrent fractures	1	1	LOVD
00331455	14DG1580	PubMed: Maddirevula 2018	isolated case	F	yes	-	Arab	-	-	-	-	skeletal dysplasia	Recurrent fractures	1	1	LOVD
00373170	Family O	PubMed: Schwarze 2013	-	-	-	-	-	-	-	-	-	BRKS	-	1	1	Peter Byers
00373171	Family 5	PubMed: Caparrós-Martin 2013	-	-	-	Egypt	-	-	-	-	-	OI	-	1	1	Victor L Ruiz-Perez
00373172	P.27	PubMed: Trancozo 2019	-	-	-	Brazil	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373173	Case 2	PubMed: Kelley 2011	The parents are consanguineous.; Kelley et al., classify this patient as having Bruck syndrome type 1, but that type maps to 17p12 ({PMID9927692:Bank et al., 1999}), whereas FKBP10 maps to 17q21.2.	-	yes	-	Punjabi	-	-	-	-	BRKS	-	1	1	Raymond Dalgleish
00373174	P.28	PubMed: Trancozo 2019	-	-	-	Brazil	-	-	-	-	-	OI	-	2	1	Raymond Dalgleish
00373175	-	PubMed: Moravej 2015	The parents of the proband are first cousins.	-	yes	Iran	-	-	-	-	-	BRKS	-	1	1	Raymond Dalgleish
00373176	Family P	PubMed: Schwarze 2013	-	-	-	Somalia	Africa-E	-	-	-	-	BRKS	-	1	1	Peter Byers
00373177	No. 1004	PubMed: Caparros-Martin 2016	-	-	-	Egypt	-	-	-	-	-	BRKS	-	1	1	Raymond Dalgleish
00373178	-	PubMed: Alanay 2010	There is a founder effect for this variant which was detected in the five Turkish families described in the paper.; The variant is mistakenly described at the protein level as p.Gly107_Leu117del.	-	-	Turkey	-	-	-	-	-	OI	-	1	1	Peter Byers
00373179	Family Q	PubMed: Schwarze 2013	-	-	-	-	-	-	-	-	-	BRKS	-	1	1	Peter Byers
00373180	Family R	PubMed: Schwarze 2013	This patient was previously described by {PMID9129737:McPherson and Clemens 1997}.	-	-	-	-	-	-	-	-	BRKS	-	1	1	Peter Byers
00373181	Family 1	PubMed: Xu 2017	-	-	-	China	Han	-	-	-	-	OI	-	2	1	Raymond Dalgleish
00373182	-	PubMed: Vorster 2017	-	-	-	South Africa	Bantu (Zulu)	-	-	-	-	OI	-	2	1	Raymond Dalgleish
00373183	Case 6	PubMed: Kelley 2011	-	-	-	-	white	-	-	-	-	BRKS	-	2	1	Raymond Dalgleish
00373184	Family K	PubMed: Schwarze 2013	The three affected individuals in this family have been described previously by {PMID9481655:Breslau-Siderius et al., 1998} and {PMID9927692:Bank et al., 1999}.	-	-	-	Kurdish	-	-	-	-	BRKS	-	1	1	Peter Byers
00373185	Family B	PubMed: Umair 2016	-	-	-	Pakistan	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373186	-	PubMed: Li 2019, Journal: Li 2019	-	-	-	China	-	-	-	-	-	OI	-	2	1	Xiuli Zhao
00373187	AN_005833	PubMed: Essawi 2018	-	-	-	Palestine	-	-	-	-	-	OI	-	1	1	Sofie Symoens
00373188	AN_005834	PubMed: Essawi 2018	This patient might be related to patient AN_005833 who is homozygous for the same variant and is also from the same city.	-	-	Palestine	-	-	-	-	-	OI	-	1	1	Sofie Symoens
00373189	Family S	PubMed: Schwarze 2013	-	-	-	-	-	-	-	-	-	BRKS	-	1	1	Peter Byers
00373190	-	PubMed: Li 2019, Journal: Li 2019	-	-	-	China	-	-	-	-	-	OI	-	2	1	Xiuli Zhao
00373192	P.1	PubMed: Barbirato 2016	-	-	-	Brazil	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373193	-	PubMed: Setijowati 2011	The parents of the patient are second cousins.	-	yes	Indonesia	-	-	-	-	-	BRKS	-	1	1	Raymond Dalgleish
00373194	-	PubMed: Velasco and Morales, 2017	The parents are first cousins. The authors also report that their patient has a type III OI phenotype.	-	yes	Colombia	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373195	Family 6	PubMed: Caparrós-Martin 2013	-	-	-	Lebanon	-	-	-	-	-	OI	-	1	1	Victor L Ruiz-Perez
00373196	-	-	-	-	-	-	-	-	-	-	-	?	-	1	1	Raymond Dalgleish
00373197	Family 1	PubMed: Shaheen 2011	The parents are consanguineous and there is phenotypic variability between the proband and her older sister as well as with affected cousins.; This patients family has the ID OI_F1 ({PMID23054245:Shaheen et al., 2012}).	-	yes	Saudi Arabia	-	-	-	-	-	BRKS	-	1	1	Raymond Dalgleish
00373198	Family M	PubMed: Schwarze 2013	Both affected individuals in this family are described as having OI III rather than Bruck syndrome.	-	-	-	-	-	-	-	-	OI	-	1	1	Peter Byers
00373199	Family 1	PubMed: Zhou 2014	-	-	-	China	-	-	-	-	-	BRKS	-	2	1	Raymond Dalgleish
00373200	-	PubMed: Li 2019, Journal: Li 2019	-	-	-	China	-	-	-	-	-	OI	-	2	1	Xiuli Zhao
00373201	Family 3	PubMed: Zhang 2018	-	-	-	China	-	-	-	-	-	OI	-	2	1	Raymond Dalgleish
00373202	-	PubMed: Vorster 2017	-	-	-	South Africa	Bantu (Sotho)	-	-	-	-	OI	-	2	1	Raymond Dalgleish
00373203	-	PubMed: Vorster 2017	-	-	-	South Africa	Bantu (Sotho)	-	-	-	-	OI	-	2	1	Raymond Dalgleish
00373204	-	PubMed: Vorster 2017	-	-	-	South Africa	Bantu (Sotho)	-	-	-	-	OI	-	2	1	Raymond Dalgleish
00373205	-	PubMed: Vorster 2017	-	-	-	South Africa	Bantu (Sotho)	-	-	-	-	OI	-	2	1	Raymond Dalgleish
00373207	-	PubMed: Alanay 2010	-	-	-	Turkey	-	-	-	-	-	OI	-	1	1	Peter Byers
00373208	Case 1	PubMed: Kelley 2011	The parents are first cousins.; Kelley et al., classify this patient as having Bruck syndrome type 1, but that type maps to 17p12 ({PMID9927692:Bank et al., 1999}), whereas FKBP10 maps to 17q21.2.	-	yes	Turkey	-	-	-	-	-	BRKS	-	1	1	Raymond Dalgleish
00373209	Case 3	PubMed: Kelley 2011	The parents are consanguineous. There is variable expressivity in the family: the elder sister (Case 4) has a phenotype more consistent with type III OI. The clinical histories of cases 3 and 4 have been reported previously by PubMed: Mokete et al., 2005.; Kelley et al., classify this patient as having Bruck syndrome type 1, but that type maps to 17p12 ({PMID9927692:Bank et al., 1999}), whereas FKBP10 maps to 17q21.2.	-	yes	South Africa	Venda	-	-	-	-	BRKS	-	1	1	Raymond Dalgleish
00373210	Case 5	PubMed: Kelley 2011	The clinical history of the patient has been described twice before by {PMID2766569:Viljoen et al., 1989} and by PubMed: Mokete et al., 2005.; Kelley et al., classify this patient as having Bruck syndrome type 1, but that type maps to 17p12 ({PMID9927692:Bank et al., 1999}), whereas FKBP10 maps to 17q21.2.	-	-	South Africa	-	-	-	-	-	BRKS	-	2	1	Raymond Dalgleish
00373211	Family 2	PubMed: Shaheen 2011	The parents are first cousins with three noenatal deaths with frcatures and presumed diagnosis of OI.	-	yes	Saudi Arabia	-	-	-	-	-	BRKS	-	1	1	Raymond Dalgleish
00373212	Family 7	PubMed: Caparrós-Martin 2013	proband, older sister (AN_002118) has the phenotype of type III OI.	-	-	Sudan	-	-	-	-	-	BRKS	-	1	1	Victor L Ruiz-Perez
00373213	Family N	PubMed: Schwarze 2013	-	-	-	-	-	-	-	-	-	BRKS	-	1	1	Peter Byers
00373214	Family U	PubMed: Schwarze 2013	-	-	-	-	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373215	Family T	PubMed: Schwarze 2013	-	-	-	-	-	-	-	-	-	BRKS	-	1	1	Peter Byers
00373216	Family C	PubMed: Schwarze 2013	-	-	-	Samoa	Samoa;Europe	-	-	-	-	BRKS	-	2	1	Peter Byers
00373217	Family C	PubMed: Umair 2016	Affected members of the family are descibed as having severe progressive OI.	-	-	Pakistan	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373218	-	PubMed: Kaneto 2016	-	-	-	-	-	-	-	-	-	BRKS	-	1	1	Raymond Dalgleish
00373219	Family 3	PubMed: Xu 2017	-	-	-	China	Han	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373220	227	PubMed: Alabdullatif 2016	-	-	-	-	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373221	No. 85	PubMed: Caparros-Martin 2016	-	-	-	Egypt	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373222	P2	PubMed: Mrosk 2018	-	-	-	India	-	-	-	-	-	BRKS	-	1	1	Raymond Dalgleish
00373224	-	PubMed: Vorster 2017	-	-	-	-	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373225	-	PubMed: Vorster 2017	-	-	-	South Africa	Bantu (Sotho)	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373226	-	PubMed: Vorster 2017	-	-	-	South Africa	Bantu (Sotho)	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373227	-	PubMed: Vorster 2017	-	-	-	South Africa	Bantu (Sotho)	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373228	-	PubMed: Vorster 2017	-	-	-	South Africa	Bantu (Sotho)	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373229	-	PubMed: Vorster 2017	-	-	-	South Africa	Bantu (Xhosa)	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373230	-	PubMed: Vorster 2017	-	-	-	South Africa	Bantu (Zulu)	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373231	-	PubMed: Vorster 2017	-	-	-	South Africa	Bantu (Zulu)	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373232	-	PubMed: Vorster 2017	-	-	-	South Africa	Bantu (Zulu)	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373233	-	PubMed: Vorster 2017	-	-	-	South Africa	Bantu (Zulu)	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373234	-	PubMed: Vorster 2017	-	-	-	South Africa	Bantu (Zulu)	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373235	-	PubMed: Vorster 2017	-	-	-	South Africa	Bantu (Zulu)	-	-	-	-	?	-	1	1	Raymond Dalgleish
00373236	-	PubMed: Vorster 2017	-	-	-	South Africa	Bantu (Xhosa)	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373237	-	PubMed: Vorster 2017	-	-	-	South Africa	Bantu (Xhosa)	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373238	-	PubMed: Vorster 2017	-	-	-	South Africa	Bantu (Xhosa)	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373239	-	PubMed: Vorster 2017	-	-	-	South Africa	Bantu (Zulu)	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373240	-	PubMed: Vorster 2017	-	-	-	South Africa	Bantu (Zulu)	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373241	-	PubMed: Vorster 2017	-	-	-	South Africa	Bantu (Zulu)	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373242	-	PubMed: Vorster 2017	-	-	-	South Africa	Bantu (Zulu)	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373243	-	PubMed: Vorster 2017	-	-	-	South Africa	Bantu (Zulu)	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373244	-	PubMed: Vorster 2017	-	-	-	South Africa	Bantu (Zulu)	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373245	-	PubMed: Vorster 2017	-	-	-	South Africa	Bantu (Zulu)	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373246	-	PubMed: Vorster 2017	-	-	-	South Africa	Bantu (Sotho)	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373247	-	PubMed: Vorster 2017	-	-	-	-	Pedi	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373248	-	PubMed: Vorster 2017	-	-	-	South Africa	Bantu (Tsonga)	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373249	-	PubMed: Vorster 2017	-	-	-	South Africa	Bantu (Zulu)	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373250	-	PubMed: Vorster 2017	-	-	-	South Africa	Bantu (Sotho)	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373251	-	PubMed: Vorster 2017	-	-	-	South Africa	Bantu (Zulu)	-	-	-	-	OI	-	1	1	Raymond Dalgleish

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Global Variome shared LOVD

FKBP10 (FKBP prolyl isomerase 10)