All individuals with variants in gene WNT1

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.

116 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
00295531	-	-	-	-	-	-	-	-	-	-	-	?	-	1	1	Muhammad Umair
00295532	-	-	-	-	-	-	-	-	-	-	-	?	-	1	1	Muhammad Umair
00300382	Fam36	PubMed: Liu 2017	analysis 101 unrelated OI families	-	-	China	-	-	-	-	-	OI	-	2	1	Johan den Dunnen
00300383	Fam37	PubMed: Liu 2017	analysis 101 unrelated OI families	-	-	China	-	-	-	-	-	OI	-	2	1	Johan den Dunnen
00300384	Fam38	PubMed: Liu 2017	analysis 101 unrelated OI families	-	-	China	-	-	-	-	-	OI	-	2	1	Johan den Dunnen
00300435	Fam88	PubMed: Liu 2017	analysis 101 unrelated OI families	F	-	China	-	-	-	-	-	OI	-	1	1	Johan den Dunnen
00331596	14DG1577	PubMed: Maddirevula 2018	isolated case	M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Recurrent fractures, Blue sclerae, Osteopenia, Bowing of the legs, Delayed gross motor de Yes	1	1	LOVD
00331597	08DG00450 , 08DG00451 , 08DG00456	PubMed: Maddirevula 2018	family, 3 affected (3M)	M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Recurrent fractures	1	3	LOVD
00331598	10DG1539	PubMed: Maddirevula 2018	isolated case	M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Global developmental delay, Muscular hypotonia, Wide anterior fontanel, Delayed cranial Yes	1	1	LOVD
00372779	PUMC-277	PubMed: Li 2019, Journal: Li 2019, PubMed: Li 2020	-	-	-	China	-	-	-	-	-	OI	0.17 y-first fracture, 2 fractures; height Z -1.43; scoliosis; no blue sclerae; no ptosis	2	1	Xiuli Zhao
00372780	-	PubMed: Kuptanon 2019	-	-	-	-	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372781	PUMC-258	PubMed: Li 2019, Journal: Li 2019, PubMed: Li 2020	-	-	-	China	-	-	-	-	-	OI	0.08 y-first fracture, 4 fractures; height Z -3.7; no scoliosis; blue sclerae; no hearing loss; no ptosis	2	1	Xiuli Zhao
00372782	-	PubMed: Panigrahi 2018	-	-	-	-	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372783	PUMC-327	PubMed: Li 2019, Journal: Li 2019, PubMed: Li 2020	-	-	-	China	-	-	-	-	-	OI	6 fractures; height Z -2.91; scoliosis; no blue sclerae; dentinogenesis imperfecta; no hearing loss; not able to walk independently; no ptosis	2	1	Xiuli Zhao
00372784	PUMC-245	PubMed: Li 2019, Journal: Li 2019, PubMed: Li 2020	-	-	-	China	-	-	-	-	-	OI	0.13 y-first fracture, 5 fractures; height Z -1.06; scoliosis; no blue sclerae; no dentinogenesis imperfecta; no hearing loss; not able to walk independently; no ptosis	2	1	Xiuli Zhao
00372785	-	PubMed: Liu 2016	-	-	-	China	-	-	-	-	-	OI	-	2	1	Raymond Dalgleish
00372786	-	PubMed: Aldinger 2015	-	-	-	China	-	-	-	-	-	OI	-	2	1	Raymond Dalgleish
00372787	PUMC-128	PubMed: Li 2019, Journal: Li 2019, PubMed: Li 2020	-	-	-	China	-	-	-	-	-	OI	1y-first fracture, 10 fractures; height Z -2.90; no scoliosis; no blue sclerae; no dentinogenesis imperfecta; no hearing loss; able to walk; no ptosis	2	1	Xiuli Zhao
00372788	PUMC-158	PubMed: Li 2019, Journal: Li 2019, PubMed: Li 2020	-	-	-	China	-	-	-	-	-	OI	5y-first fracture, 3 fractures; height Z -1.71; no scoliosis; blue sclerae; no dentinogenesis imperfecta; no hearing loss; able to walk; no ptosis	2	1	Xiuli Zhao
00372789	AN_005854	PubMed: Essawi 2018	-	-	-	India	-	-	-	-	-	OI	-	1	1	Sofie Symoens
00372790	-	PubMed: Nampoothiri 2019	-	-	-	India	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372791	-	PubMed: Pyott 2013	The proband (II-1) has an affected younger sibling (II-2). The phenotype is consistent with OI III but has not been independently confirmed.	-	-	-	-	-	-	-	-	OI	-	2	1	Peter Byers
00372792	-	PubMed: Fahiminiya 2013	This patients family was reported in further depth as Family 2 by {PMID25010833:Palomo et al., 2014}.	-	-	-	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372793	-	PubMed: Pyott 2013	The parents of the proband and a younger brother are heterozygous for the variant.	-	-	-	Newfoundland	-	-	-	-	OI	-	1	1	Peter Byers
00372794	-	PubMed: Lu 2018	-	-	-	-	-	-	-	-	-	OI	-	2	1	Raymond Dalgleish
00372795	-	PubMed: Lu 2018	-	-	-	-	-	-	-	-	-	OI	-	2	1	Raymond Dalgleish
00372796	-	PubMed: Lu 2018	-	-	-	-	-	-	-	-	-	OI	-	2	1	Raymond Dalgleish
00372797	PUMC-71	PubMed: Li 2019, Journal: Li 2019, PubMed: Li 2020	-	-	-	China	-	-	-	-	-	OI	0.08 y-first fracture, 10 fractures; height Z -6.07; scoliosis; blue sclerae; dentinogenesis imperfecta; no hearing loss; not able to walk independently; ptosis	2	1	Xiuli Zhao
00372798	PUMC-230	PubMed: Li 2019, Journal: Li 2019, PubMed: Li 2020	-	-	-	China	-	-	-	-	-	OI	0.63 y-first fracture, 20 fractures; height Z 1.32; scoliosis; no blue sclerae; dentinogenesis imperfecta; no hearing loss; not able to walk independently; ptosis	2	1	Xiuli Zhao
00372799	PUMC-274	PubMed: Li 2019, Journal: Li 2019, PubMed: Li 2020	-	-	-	China	-	-	-	-	-	OI	0y-first fracture, 6 fractures; height Z -2.77; scoliosis; no blue sclerae; no dentinogenesis imperfecta; no hearing loss; not able to walk independently; ptosis	2	1	Xiuli Zhao
00372800	-	PubMed: Mrosk 2018	-	-	-	India	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372801	-	PubMed: Mrosk 2018	-	-	-	India	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372802	-	PubMed: Umair 2017	-	-	yes	Pakistan	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372803	-	PubMed: Won 2017	-	-	-	Korea	-	-	-	-	-	OI	-	2	1	Raymond Dalgleish
00372804	PUMC-329	PubMed: Li 2019, Journal: Li 2019, PubMed: Li 2020	-	-	-	China	-	-	-	-	-	OI	0.02 y-first fracture, 4 fractures; height Z -4.00; scoliosis; no blue sclerae; no dentinogenesis imperfecta; no hearing loss; not able to walk independently; no ptosis	2	1	Xiuli Zhao
00372805	-	PubMed: Liu 2016	-	-	-	China	-	-	-	-	-	OI	-	2	1	Raymond Dalgleish
00372806	-	PubMed: Lu 2018	-	-	-	-	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372807	-	PubMed: Lu 2018	-	-	-	China	-	-	-	-	-	OI	-	2	1	Raymond Dalgleish
00372808	-	PubMed: Lu 2018	The probands sister (P9) also harbours the same two variants and has the same OI type.	-	-	-	-	-	-	-	-	OI	-	2	1	Raymond Dalgleish
00372809	-	PubMed: Lu 2018	The probands brother (P11) also harbours the same two variants and has the same OI type.; The paternal variant is misreported as c.774C>T in Supplemntal Figure 2.	-	-	-	-	-	-	-	-	OI	-	2	1	Raymond Dalgleish
00372810	PUMC-3	PubMed: Li 2019, Journal: Li 2019, PubMed: Li 2020	-	-	-	China	-	-	-	-	-	OI	1y-first fracture, 3 fractures; height Z -3.78; scoliosis; no blue sclerae; no dentinogenesis imperfecta; no hearing loss; not able to walk independently; ptosis	2	1	Xiuli Zhao
00372811	-	PubMed: Caparros-Martin 2016	-	-	-	Turkey	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372812	-	PubMed: Fahiminiya 2013	This patients family was reported in further depth as Family 1 by {PMID25010833:Palomo et al., 2014}.	-	-	-	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372813	-	PubMed: Lu 2018	-	-	-	-	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372814	PUMC-154	PubMed: Li 2019, Journal: Li 2019, PubMed: Li 2020	-	-	-	China	-	-	-	-	-	OI	0.33 y-first fracture, 10 fractures; height Z -4.92; no scoliosis; blue sclerae; dentinogenesis imperfecta; no hearing loss; able to walk; ptosis	1	1	Xiuli Zhao
00372815	-	PubMed: Cao 2019	-	-	-	China	-	-	-	-	-	OI	The authors were contacted for further clarification of the OI type. They stated that this patient if classified according to pathogenic genes, is likely to have the type XV. Also, they stated that the patient could also be classified as type 4 according to the 5 types of OI (Bonafe et al., 2015, PMID: 26394607).	2	1	Raymond Dalgleish
00372817	-	PubMed: Liu 2016	-	-	-	China	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372818	-	PubMed: Liu 2016	-	-	-	China	-	-	-	-	-	OI	-	2	1	Raymond Dalgleish
00372819	-	PubMed: Caparros-Martin 2016	-	-	-	Egypt	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372820	AN_005850	-	Has another sib (brother) with the same causal variant	-	-	India	-	-	-	-	-	OI	-	1	1	Sofie Symoens
00372821	AN_005851	-	-	-	-	India	-	-	-	-	-	OI	-	1	1	Sofie Symoens
00372822	AN_005852	PubMed: Essawi 2018	-	-	-	India	-	-	-	-	-	OI	-	1	1	Sofie Symoens
00372823	AN_005853	PubMed: Essawi 2018	-	-	-	India	-	-	-	-	-	OI	-	1	1	Sofie Symoens
00372824	PUMC-10	PubMed: Li 2019, Journal: Li 2019, PubMed: Li 2020	-	-	-	China	-	-	-	-	-	OI	0.03 y-first fracture, 20 fractures; height Z -10.66; scoliosis; no blue sclerae; dentinogenesis imperfecta; no hearing loss; not able to walk independently; ptosis	1	1	Xiuli Zhao
00372825	PUMC-21	PubMed: Li 2019, Journal: Li 2019, PubMed: Li 2020	-	-	-	China	-	-	-	-	-	OI	0.25 y-first fracture, 10 fractures; height Z -5.3; scoliosis; no blue sclerae; no dentinogenesis imperfecta; no hearing loss; not able to walk independently; ptosis	1	1	Xiuli Zhao
00372826	PUMC-221	PubMed: Li 2019, Journal: Li 2019, PubMed: Li 2020	-	-	-	China	-	-	-	-	-	OI	0y-first fracture, 30 fractures; height Z -2.53; scoliosis; no blue sclerae; dentinogenesis imperfecta; no hearing loss; not able to walk independently; ptosis	1	1	Xiuli Zhao
00372827	-	PubMed: Mrosk 2018	-	-	-	India	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372828	-	PubMed: Mrosk 2018	The patient was homozygous for the variation. Whilst the patients mother as a heterozygous, data for the patients father is not known.	-	-	India	-	-	-	-	-	?	-	1	1	Raymond Dalgleish
00372829	-	PubMed: Mrosk 2018	The was hypertrophic callus formation noted in the patient.	-	-	India	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372830	-	PubMed: Mrosk 2018	-	-	-	India	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372831	-	PubMed: Mrosk 2018	-	-	-	India	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372832	-	PubMed: Mrosk 2018	-	-	-	India	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372833	-	PubMed: Nampoothiri 2019	The patient had a brother (reported as PI-2) with the same variation.	-	-	India	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372834	-	PubMed: Nampoothiri 2019	The patient had a sister (reported as PI-1) with the same variation.	-	-	India	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372835	-	PubMed: Nampoothiri 2019	The patient had relatives (reported as PI-1 abd PI-2 in the paper) with the same variation.	-	-	India	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372836	-	PubMed: Nampoothiri 2019	-	-	-	India	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372837	-	PubMed: Nampoothiri 2019	-	-	-	India	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372838	-	PubMed: Keupp 2013	-	-	yes	Turkey	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372839	-	PubMed: Stephen 2015	The patient has two affected second cousins once removed and the parents are consanguineous and confirmed to be heterozygous for the variant.; The variant deletion spans are incorrectly reported at the DNA and protein levels.	-	-	India	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372840	-	PubMed: Lu 2018	-	-	-	-	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372841	-	PubMed: Keupp 2013	-	-	yes	Turkey	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372842	PUMC-217	PubMed: Li 2019, Journal: Li 2019, PubMed: Li 2020	-	-	-	China	-	-	-	-	-	OI	0.42 y-first fracture, 4 fractures; height Z -0.97; no scoliosis; no blue sclerae; no dentinogenesis imperfecta; no hearing loss; ptosis	1	1	Xiuli Zhao
00372843	PUMC-226	PubMed: Li 2019, Journal: Li 2019, PubMed: Li 2020	-	-	-	China	-	-	-	-	-	OI	0.11 y-first fracture, 6 fractures; height Z -5.2; scoliosis; no blue sclerae; no dentinogenesis imperfecta; no hearing loss; able to walk; no ptosis	1	1	Xiuli Zhao
00372844	-	PubMed: Keupp 2013	-	-	yes	Turkey	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372845	-	PubMed: Laine 2013	There are 10 affected individuals in four generations with severe early-onset dominantly inherited osteoporosis.	-	-	Finland	-	-	-	-	-	?	-	1	1	Raymond Dalgleish
00372846	-	PubMed: Ang 2018	The probands father also harbours the same variant and has had fractures in adulthood.; The variant was originally incorrectly described as c.666G>A, but was subsequently corrected by {PMID32195293:Timme et al., 2020}.	-	-	-	-	-	-	-	-	?	-	1	1	Raymond Dalgleish
00372847	-	PubMed: Lu 2018	-	-	-	-	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372848	PUMC-145	PubMed: Li 2019, Journal: Li 2019, PubMed: Li 2020	-	-	-	China	-	-	-	-	-	OI	0.08 y-first fracture, 20 fractures; height Z -10.74; scoliosis; no blue sclerae; dentinogenesis imperfecta; no hearing loss; able to walk; no ptosis	1	1	Xiuli Zhao
00372849	PUMC-247	PubMed: Li 2019, Journal: Li 2019, PubMed: Li 2020	-	-	-	China	-	-	-	-	-	OI	0.03 y-first fracture, 10 fractures; height Z -14.90; scoliosis; no blue sclerae; no dentinogenesis imperfecta; no hearing loss; not able to walk independently; ptosis	1	1	Xiuli Zhao
00372850	-	PubMed: Lu 2018	-	-	-	-	-	-	-	-	-	OI	-	2	1	Raymond Dalgleish
00372851	-	-	-	-	-	India	-	-	-	-	-	OI	-	1	1	Sofie Symoens
00372852	-	PubMed: Nampoothiri 2019	-	-	-	India	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372853	-	PubMed: Keupp 2013	There are five affected individuals with early-onset osteoporosis, inherited in an autosomal dominant fashion.	-	-	-	-	-	-	-	-	?	-	1	1	Raymond Dalgleish
00372854	PUMC-281	PubMed: Li 2019, Journal: Li 2019, PubMed: Li 2020	-	-	-	China	-	-	-	-	-	OI	1.50 y-first fracture, 10 fractures; height Z -2.26; scoliosis; no blue sclerae; dentinogenesis imperfecta; no hearing loss; not able to walk independently; no ptosis	2	1	Xiuli Zhao
00372855	-	PubMed: Nampoothiri 2019	-	-	-	India	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372856	-	PubMed: Keupp 2013	There are three affected individuals in two different branches of the family. The parents of these individuals are consanguineous.	-	-	Turkey	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372857	AN_005856	PubMed: Essawi 2018	-	-	-	Turkey	-	-	-	-	-	OI	-	1	1	Sofie Symoens
00372858	AN_005857	PubMed: Essawi 2018	-	-	-	Turkey	-	-	-	-	-	OI	-	1	1	Sofie Symoens
00372859	-	PubMed: Kantaputra 2019	The proband exhibits arachnoid cysts in addition to the OI phenotype.	-	-	Thailand	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372860	-	PubMed: Nampoothiri 2019	-	-	-	Turkey	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372861	-	PubMed: Nampoothiri 2019	-	-	-	Turkey	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372862	-	PubMed: Pyott 2013	The proband (II-6) has an older affected brother (II-3). The parents are first cousins.	-	-	-	Hmong	-	-	-	-	OI	-	1	1	Peter Byers
00372863	-	PubMed: Laine 2013	There are two affected sisters homozygous for this variant, one of whom has severe intellectual disability with cerebellar malformation.; The OI phenotype is described as severe and appears to be broadly consistent with OI type III.	-	-	-	Hmomg	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372864	-	PubMed: Pyott 2013	The proband (IV-2) has an affected younger brother (IV-3). The parents are first cousins.	-	-	-	-	-	-	-	-	OI	-	1	1	Peter Byers
00372865	-	PubMed: Keupp 2013	There are three affected siblings in this family. The parents are consanguineous.	-	-	Egypt	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372866	-	PubMed: Fahiminiya 2013	-	-	-	-	-	-	-	-	-	OI	-	2	1	Raymond Dalgleish
00372867	-	PubMed: Kausar 2018	-	-	-	Pakistan	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372868	-	PubMed: Faqeih 2013	-	-	yes	-	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372869	-	-	The phenotype is described as early-onset osteoporosis with fractures.	-	-	Spain	-	-	-	-	-	?	-	1	1	Raymond Dalgleish
00372870	-	PubMed: Alhamdi 2018	The phenotype is variable in the pedigree	-	-	-	-	-	-	-	-	?	-	1	1	Raymond Dalgleish

	Legend	How to query	« First	‹ Prev		1	2		Next ›	Last »

Global Variome shared LOVD

WNT1 (Wnt family member 1)