All individuals with variants in gene PIEZO2

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.

58 entries on 1 page. Showing entries 1 - 58.

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
00016696	-	PubMed: Coste 2013	Mother of 23487782-Ind2	F	?	-	Unknown	-	-	-	operated for hypertrophic, constricted neck muscles; Physical therapy	?	Short stature, Narrow/high palate, Reduced ability to open mouth, Decreased facial expression, Ophthalmoplegia, Deep-set eyes, Ptosis, Hypermetropia +7 oculus uterque, Hunched anteverted shoulders, Restrictive lung disease, Spine stiffness, Hypermobile first metacarpophalageal, Absent phalangeal creases, Poorly formed palmar creases, Limited wrist extension, abstent anterior cruciate ligaments knee, Camptodactyly, Clinodactyly Digits III–V, Dimples over large joints, Exertional dyspnea, Constriction of urethra, FEV1/FVC 60%/53%, Increased muscle tone, Tendon reflexes Weak and absent in knees and ankles, Normal intelligence, Musculoskeletal pain major problem, Altered pain sensation Possibly as child	1	1	Marianne Vos (LOVD-team)
00016697	-	PubMed: Coste 2013	Son of 23487782-Ind1	M	?	-	Unknown	-	-	-	Physical therapy	?	Short stature, Narrow/high palate, Reduced ability to open mouth, Decreased facial expression, Ophthalmoplegia, Deep-set eyes, Blepharophimosis, Ptosis, Hypermetropia +8/+10, Hunched anteverted shoulders, Likely Restrictive lung disease, Spine stiffness, Hypermobile first metacarpophalageal, Absent phalangeal creases, Poorly formed palmar creases, Limited wrist extension, Probably Absent ACL (knee), Camptodactyly, Clinodactyly Digit V, Club feet (left), Dimples over large joints, Exertional dyspnea, Weak Tendon reflexes, Normal intelligence, High pain threshold suspected	1	1	Marianne Vos (LOVD-team)
00016703	-	PubMed: Coste 2013	-	F	?	-	Unknown	-	-	-	Between the ages of 2–15 y, she required multiple orthopedic procedures on her hips, knees, and feet to improve function.	?	Short stature, Narrow/high palate, Reduced ability to open mouth, Decreased facial expression, Ophthalmoplegia, Deep-set eyes, Ptosis, Hypermetropia, Duane anomaly, Abnormal retinal pigmentation, Macular retinal folds, Hunched anteverted shoulders, Restrictive lung disease, Spine stiffness, Hypermobile first metacarpophalageal, Absent phalangeal creases, Poorly formed palmar creases, Limited wrist extension, Camptodactyly, Clinodactyly, Exertional dyspnea, FEV1/FVC 28%/26%, Increased muscle tone, Tendon reflexes weak, Normal intelligence, Hearing loss	1	1	Marianne Vos (LOVD-team)
00016710	-	PubMed: McMillin 2014, Journal: McMillin 2014	2-generation family, affected mother, daugther and 2 sons	-	no	-	-	-	-	-	-	DA3	contractures hand/feet, short stature, micrognathia (except I2); I2 scoliosis	1	4	Marianne Vos (LOVD-team)
00016711	-	PubMed: McMillin 2014, Journal: McMillin 2014	2-generation family, 1 affected, unaffected non-carrier parents	F	no	-	-	-	-	-	-	DA3	contractures hand/feet, cleft pallate, short stature, micrognathia, ptosis, scoliosis	1	1	Marianne Vos (LOVD-team)
00016713	-	PubMed: McMillin 2014, Journal: McMillin 2014	2-generation family, 1 affected, unaffected non-carrier parents	F	-	-	-	-	-	-	-	DA3	contractures hand/feet, cleft pallate, micrognathia, rigid scoliosis	1	1	Marianne Vos (LOVD-team)
00016720	-	PubMed: McMillin 2014, Journal: McMillin 2014	3-generation family, 9 affecteds (6F, 3M)	-	-	-	-	-	-	-	-	DA5	contractures hand/feet; III7 mild ptosis; ophthalmoplegia (except II6); I2/II2/II5 pulmonary disease	1	9	Marianne Vos (LOVD-team)
00016723	-	PubMed: McMillin 2014, Journal: McMillin 2014	3-generation family, 4 affecteds	-	-	-	-	-	-	-	-	DA5	contractures hand/feet, short stature, mild bilateral ptosis, bilateral ophthalmoplegia, scoliosis, pulmonary disease	1	4	Marianne Vos (LOVD-team)
00049809	-	PubMed: McMillin 2014, Journal: McMillin 2014	2-generation family, 1 affected, unaffected non-carrier parents	M	-	-	-	-	-	-	-	DA3	contractures hand/feet, cleft pallate	1	1	Johan den Dunnen
00049810	-	PubMed: McMillin 2014, Journal: McMillin 2014	2-generation family, 1 affected, unaffected non-carrier parents	M	-	-	-	-	-	-	-	DA3	contractures hand/feet, cleft pallate, micrognathia, ophtalmoplegia	1	1	Johan den Dunnen
00049811	-	PubMed: McMillin 2014, Journal: McMillin 2014	2-generation family, 1 affected, unaffected non-carrier parents	F	-	-	-	-	-	-	-	DA3	contractures hand/feet, bilid uvula, micrognathia, mild ptosis	1	1	Johan den Dunnen
00049812	-	PubMed: McMillin 2014, Journal: McMillin 2014	2-generation family, affected mother/son	-	-	-	-	-	-	-	-	DA3	contractures hand/feet, bilid uvula, micrognathia, scoliosis	1	2	Johan den Dunnen
00049813	-	PubMed: McMillin 2014, Journal: McMillin 2014	2-generation family, 1 affected	F	-	-	-	-	-	-	-	DA3	contractures hand/feet, cleft pallate, scoliosis, +/- cognitive delay, Chiari I malformation	1	1	Johan den Dunnen
00049814	-	PubMed: McMillin 2014, Journal: McMillin 2014	2-generation family, 1 affected, unaffected non-carrier parents	M	-	-	-	-	-	-	-	DA3	contractures hand/feet, cleft pallate, short stature, micrognathia, ptosis, Chiari I malformation	1	1	Johan den Dunnen
00049815	-	PubMed: McMillin 2014, Journal: McMillin 2014	2-generation family, affected mother/son	-	-	-	-	-	-	-	-	DA3	contractures hand/feet, cleft pallate, short stature, ophthalmoplegia, scoliosis, Chiari I malformation, mild ptosis	1	2	Johan den Dunnen
00049816	-	PubMed: McMillin 2014, Journal: McMillin 2014	5-generation family, 3 affecteds (2F, M)	-	-	-	-	-	-	-	-	DA5	contractures hand/feet	1	3	Johan den Dunnen
00049817	-	PubMed: McMillin 2014, Journal: McMillin 2014	5-generation family, 6 affecteds (F, 5M)	-	-	-	-	-	-	-	-	DA5	contractures hand/feet	1	6	Johan den Dunnen
00049818	-	PubMed: McMillin 2014, Journal: McMillin 2014	3-generation family, 3 affecteds (2F, M)	-	-	-	-	-	-	-	-	DA5	contractures hand/feet	1	3	Johan den Dunnen
00049819	-	PubMed: McMillin 2014, Journal: McMillin 2014	2-generation family, affected father/son	M	-	-	-	-	-	-	-	DA5	contractures hand/feet	1	2	Johan den Dunnen
00049820	-	PubMed: McMillin 2014, Journal: McMillin 2014	3-generation family, affected father/son	M	-	-	-	-	-	-	-	DA5	contractures hand/feet	1	2	Johan den Dunnen
00049821	-	PubMed: McMillin 2014, Journal: McMillin 2014	3-generation family, affected father/son	-	-	-	-	-	-	-	-	DA5	contractures hand/feet	1	2	Johan den Dunnen
00049822	-	PubMed: McMillin 2014, Journal: McMillin 2014	3-generation family, affected mother/son	-	-	-	-	-	-	-	-	DA5	contractures hand/feet	1	2	Johan den Dunnen
00049823	-	PubMed: McMillin 2014, Journal: McMillin 2014	3-generation family, 3 affecteds (F, 2M)	-	-	-	-	-	-	-	-	DA5	contractures hand/feet	1	3	Johan den Dunnen
00049824	-	PubMed: McMillin 2014, Journal: McMillin 2014	3-generation family, affected mother/son	-	-	-	-	-	-	-	-	DA5	contractures hand/feet	1	2	Johan den Dunnen
00049825	-	PubMed: McMillin 2014, Journal: McMillin 2014	3-generation family, affected father/daugther	-	-	-	-	-	-	-	-	DA5	contractures hand/feet	1	2	Johan den Dunnen
00049826	-	PubMed: McMillin 2014, Journal: McMillin 2014	3-generation family, affected mother/daugther	F	-	-	-	-	-	-	-	DA5	contractures hand/feet	1	2	Johan den Dunnen
00049827	-	PubMed: McMillin 2014, Journal: McMillin 2014	2-generation family, 1 affected	M	-	-	-	-	-	-	-	DA5	contractures hand/feet	1	1	Johan den Dunnen
00049828	-	PubMed: McMillin 2014, Journal: McMillin 2014	2-generation family, 1 affected, unaffected non-carrier parents	M	-	-	-	-	-	-	-	DA5	contractures hand/feet	1	1	Johan den Dunnen
00049829	-	PubMed: McMillin 2014, Journal: McMillin 2014	2-generation family, 1 affected, unaffected parents (mosaic father)	M	-	-	-	-	-	-	-	DA5	contractures hand/feet	1	1	Johan den Dunnen
00049830	-	PubMed: McMillin 2014, Journal: McMillin 2014	3-generation family, 1 affected, unaffected non-carrier parents	M	-	-	-	-	-	-	-	DA5	contractures hand/feet	1	1	Johan den Dunnen
00049831	-	PubMed: McMillin 2014, Journal: McMillin 2014	3-generation family, 1 affected, unaffected non-carrier parents	M	-	-	-	-	-	-	-	DA5	contractures hand/feet	1	1	Johan den Dunnen
00049832	-	PubMed: McMillin 2014, Journal: McMillin 2014	2-generation family, 1 affected, unaffected non-carrier parents	F	-	-	-	-	-	-	-	DA5	contractures hand/feet	1	1	Johan den Dunnen
00049833	-	PubMed: McMillin 2014, Journal: McMillin 2014	2-generation family, 1 affected, unaffected non-carrier parents	M	-	-	-	-	-	-	-	DA5	contractures hand/feet	1	1	Johan den Dunnen
00049834	-	PubMed: McMillin 2014, Journal: McMillin 2014	2-generation family, 1 affected, unaffected non-carrier parents	M	-	-	-	-	-	-	-	DA5	contractures hand/feet	1	1	Johan den Dunnen
00049835	-	PubMed: McMillin 2014, Journal: McMillin 2014	2-generation family, 1 affected, unaffected non-carrier parents	M	-	-	-	-	-	-	-	DA5	contractures hand/feet	1	1	Johan den Dunnen
00049836	-	PubMed: McMillin 2014, Journal: McMillin 2014	2-generation family, 1 affected, unaffected non-carrier parents	F	-	-	-	-	-	-	-	DA5	contractures hand/feet	1	1	Johan den Dunnen
00049837	-	PubMed: McMillin 2014, Journal: McMillin 2014	3-generation family, 4 affectedS (3F, M)	-	-	-	-	-	-	-	-	DA5	contractures hand/feet	1	4	Johan den Dunnen
00049838	-	PubMed: McMillin 2014, Journal: McMillin 2014	2-generation family, 1 affected, unaffected non-carrier parents	M	-	-	-	-	-	-	-	MWKS	contractures hand/feet	1	1	Johan den Dunnen
00208603	Fam8	-	-	-	-	-	-	-	-	-	-	cancer, rectal	-	3	2	Xiang Jiao
00208611	Fam918	-	-	-	-	-	-	-	-	-	-	cancer, rectal	-	1	2	Xiang Jiao
00208612	Fam1213	-	-	-	-	-	-	-	-	-	-	cancer, rectal	-	1	1	Xiang Jiao
00210169	-	-	-	F	-	Germany	-	-	-	-	-	-	HP:0000925 (Abnormality of the vertebral column); HP:0003198 (Myopathy); HP:0003306 (Spinal rigidity); HP:0011805 (Abnormality of muscle morphology)	1	1	Andreas Laner
00227816	-	-	-	?	-	-	-	-	-	-	-	?	HP:0010871 (Sensory ataxia)	2	1	IMGAG
00291907	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	80	Mohammed Faruq
00291908	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	5	Mohammed Faruq
00304616	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00307191	D15-1255	PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020	-	-	-	Australia	-	-	-	-	-	DA	distal arthrogryposis	1	1	Gianina Ravenscroft
00307193	D15-1298	PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020	-	-	-	Australia	-	-	-	-	-	DA	skeletal muscle atrophy; shoulder flexion contracture; elbow flexion contracture; knee flexion contracture; hip contracture; bilateral talipes equinovarus; absent palmar crease; stiff fingers; interphalangeal joint contracture of finger	1	1	Gianina Ravenscroft
00307198	D16-0479	PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020	-	-	-	Australia	-	-	-	-	-	DA	talipes (severe); joint contracture hand; down-sloping shoulders; limited elbow movement; short hallux; distal arthrogryposis	1	1	Gianina Ravenscroft
00390061	Pat8	PubMed: Kritioti 2021	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	Cyprus	Greece	-	-	-	-	?	Severe intellectual disability, developmental delay, seizures, primary microcephaly, tetraparesis, spasticity with permanent contractures, long fingers, thickened alveolar ridge, thickened gums, strabismus, scoliosis, exaggerated reflexes, bilateral foot deformities	2	1	Johan den Dunnen
00408704	Pat66	PubMed: Thomas 2022	patient, affected father and sister	-	-	France	-	-	-	-	-	NMD	-	1	3	Johan den Dunnen
00415198	8	PubMed: Matias-Perez 2018	PIEZO2 family, proband	F	-	-	Mexican	-	-	-	-	retinal disease	microphthalmia left eye; sclerocornea and cornea plana right eye	1	1	LOVD
00415199	8's mother	PubMed: Matias-Perez 2018	PIEZO2 family, proband's mother	F	-	-	Mexican	-	-	-	-	retinal disease	-	1	1	LOVD
00426165	10MS9600	PubMed: Al-Kasbi 2022	patient, other affecteds in family	F	-	Oman	-	-	-	-	-	DA, ID	-	1	1	Johan den Dunnen
00428071	Pat10	PubMed: Paul 2023, Journal: Paul 2023	patent ductus arteriosus,siblings with ADHD, dyslexia, tics; (aternal aunt with Ccerebral palsy Iintellectual disability hydrocephalus, aeizures)	M	-	United States	Europe	-	-	-	-	NDD	brith 39w, weight 3.07 kg (28th%ile, Z score -0.58), length 53.3 cm (96th%ile, Z score +1.8), OFC 35 cm (66th%ile, Z score +0.42); delayed speech development; delayed gross motor development; delayed fine motor milestones; global developmental delay; Lennox Gastaut syndrome with tonic seizures and atypical absence seizures; diffuse hypotonia; MRI brain decreased volume of corpus callosum, small anterior commissure, subtle interdigitation of the inferomedial frontal gyri; no behavior abnormalities; no failure to thrive; feeding problems; dysmotility, dysphagia, constipation; no hypoventilation; bilateral exotropia; no hearing impairment; relative macrocephaly; congenital penile chordee with phimosis; episodes of dysautonomic storm	1	1	Johan den Dunnen
00428228	Fam9PatII1	PubMed: Falb 2023, Journal: Falb 2023	family, affected mother daughter	F	-	Germany	-	-	-	-	-	?	reduced fetal movements; contractures wrists, hips, knees, talipes equinovarus (bilateral); camptodactyly	1	2	Johan den Dunnen
00428242	Fam9mother	PubMed: Falb 2023, Journal: Falb 2023	mother	F	-	Germany	-	-	-	-	-	?	similar to daughter	1	1	Johan den Dunnen
00459416	Fam1PatII3	PubMed: Bayam 2024	3-generation family, 3 affected, unaffected heterozygous carrier parents, older sister (PatII1) 7d-deceased	M	yes	Sudan	-	1d	-	-	-	NDD	see paper; ..., 1d-deceased; birth 37w, elective C-section, weight 2.5kg, OFC 32cm (-1 SD); MRI brain agenesis corpus callosum, microcephaly, pontocerebellar hypoplasia, dilated ventricular system, simplified gyral pattern; hyperreflexia; seizures 20-gw intrauterine, 1d myoclonic convulsions immediately after birth; no obvious facial dysmorphism	1	1	Johan den Dunnen

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Global Variome shared LOVD

PIEZO2 (piezo-type mechanosensitive ion channel com...)