All individuals with variants in gene PDZD7

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.

47 entries on 1 page. Showing entries 1 - 47.

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
00059178	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	1	1	Manou Sommen
00059188	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	1	1	Manou Sommen
00081426	-	-	family, affected homozygous mother and 3 children, heterozygous unaffected father/child	F	yes	Pakistan	-	-	-	-	-	DFNB;ARNSHL	Autosomal recessive nonsyndromic hearing loss	1	4	Polona Le Quesne Stabej
00163026	FamL-755PatII1	PubMed: Booth 2015	2-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier parents	F	-	Iran	-	-	-	-	-	deafness	-	2	3	Anne-Françoise Roux
00163027	FamL-755PatII3	PubMed: Booth 2015	brother	M	-	Iran	-	-	-	-	-	deafness	-	2	1	Anne-Françoise Roux
00163028	FamL-755PatII4	PubMed: Booth 2015	sister	F	-	-	-	-	-	-	-	deafness	-	2	1	Anne-Françoise Roux
00163029	FamL-8600482PatII2	PubMed: Booth 2015	Proband	M	-	Iran	-	-	-	-	-	deafness	-	1	2	Anne-Françoise Roux
00163030	FamL-8600482PatII3	PubMed: Booth 2015	sister	F	-	Iran	-	-	-	-	-	deafness	-	1	1	Anne-Françoise Roux
00163031	FamL-445PatII1	PubMed: Booth 2015	2-generation family, 4 affected sibs (2F, 2M), unaffected heterozygous carrier parents	F	-	Iran	-	-	-	-	-	deafness	-	1	4	Anne-Françoise Roux
00163032	FamL-445PatII2	PubMed: Booth 2015	sister	F	-	Iran	-	-	-	-	-	deafness	-	1	1	Anne-Françoise Roux
00163033	FamL-445PatII4	PubMed: Booth 2015	brother	M	-	Iran	-	-	-	-	-	deafness	-	1	1	Anne-Françoise Roux
00163034	FamL-445PatII6	PubMed: Booth 2015	brother	M	-	Iran	-	-	-	-	-	deafness	-	1	1	Anne-Françoise Roux
00163035	FamL-8900092PatII1	PubMed: Booth 2015	2-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier parents	M	-	Iran	-	-	-	-	-	deafness	-	1	3	Anne-Françoise Roux
00163036	FamL-8900092PatII2	PubMed: Booth 2015	sister	F	-	Iran	-	-	-	-	-	deafness	-	1	1	Anne-Françoise Roux
00163037	FamL-8900092PatII3	PubMed: Booth 2015	sister	F	-	Iran	-	-	-	-	-	deafness	-	1	1	Anne-Françoise Roux
00163038	-	PubMed: Vona et al., 2016	Proband - Autosomal recessive deafness	-	-	-	-	-	-	-	-	deafness	-	2	1	Barbara Vona
00163039	-	PubMed: Besnard, Garcia-Garcia et al., 2014	Proband	M	-	France	-	-	-	-	-	deafness	-	1	1	Anne-Françoise Roux
00163040	-	PubMed: Rong et al., 2014	Proband	F	-	China	-	-	-	-	-	USH1	-	1	1	Anne-Françoise Roux
00163041	-	PubMed: Rong et al., 2014	Proband	M	-	China	-	-	-	-	-	USH1	-	1	1	Anne-Françoise Roux
00163042	-	PubMed: Besnard, Garcia-Garcia et al., 2014	Proband	F	-	France	-	-	-	-	-	USH1	-	1	1	Anne-Françoise Roux
00163043	-	PubMed: Besnard, Garcia-Garcia et al., 2014	Proband	F	-	France	-	-	-	-	-	USH1	-	1	1	Anne-Françoise Roux
00163044	-	PubMed: Ebermann et al., 2010	Proband - Carries c.1750-2A>G in PDZD7 - heterozygous, 0/200 controls	F	-	-	-	-	-	-	-	USH2	-	1	1	Anne-Françoise Roux
00163045	-	PubMed: Ebermann et al., 2009	Proband	F	-	Canada	-	-	-	-	-	USH2	-	1	1	Anne-Françoise Roux
00163046	-	PubMed: Bonnet et al., 2016	Proband	M	-	Italy	-	-	-	-	-	USH2	-	1	1	Crystel Bonnet
00163047	-	PubMed: Rong et al., 2014	Proband - variants found in samples of two affected brothers. They carry the same causative mutations in MYO7A, but other variants cannot be discriminated from the publication.	M	-	China	-	-	-	-	-	USH2	-	1	1	Anne-Françoise Roux
00163048	-	PubMed: Ebermann et al., 2010	Proband - carries c.2194_2203del - p.Cys732Leufs* in PDZD7 - heterozygous, 0/405 controls	M	-	Germany	-	-	-	-	-	USH2	-	1	1	Anne-Françoise Roux
00163049	-	PubMed: Ebermann et al., 2010	Proband	M	-	France	-	-	-	-	-	USH2	-	1	1	Anne-Françoise Roux
00163050	-	PubMed: Besnard, Garcia-Garcia et al., 2014	Proband	F	-	France	-	-	-	-	-	USH2	-	1	1	Anne-Françoise Roux
00275934	SB78-137	PubMed: Kim 2020, Journal: Kim 2020	-	-	-	Korea	-	-	-	-	-	deafness	-	1	1	Doo-Yi Oh
00289977	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	159	Mohammed Faruq
00289978	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	156	Mohammed Faruq
00289979	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00289980	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	2	Mohammed Faruq
00295949	SB297-597	-	-	F	?	Korea, South (Republic)	Asian	00y05m	-	-	-	deafness	SNHL, moderate hearing loss	1	1	Seungmin Lee
00304227	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	5	Mohammed Faruq
00304228	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	5	Mohammed Faruq
00325522	EC06	PubMed: Zenteno 2020	single patient	-	-	Mexico	-	-	-	-	-	retinal disease	retinitis pigmentosa	1	1	Johan den Dunnen
00375416	RP#008	PubMed: Katagiri 2014	family	-	-	Japan	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00375422	RP#015	PubMed: Katagiri 2014	family	-	-	Japan	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00384215	066887	PubMed: Tayebi 2019	-	-	-	Iran	-	-	-	-	-	retinal disease	-	1	1	LOVD
00386384	II:1	PubMed: Gonzalez-del Pozo 2020	father of III:3	M	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00386385	III:3	PubMed: Gonzalez-del Pozo 2020	proband	F	-	Spain	-	-	-	-	-	retinal disease	Night blindness, reduction of the visual field	1	1	LOVD
00386959	-	PubMed: Mansard et al, 2021	-	?	-	-	-	-	-	-	-	USH2A	-	1	1	Anne-Françoise Roux
00387243	-	PubMed: Mansard et al, 2021	-	M	-	-	-	-	-	-	-	USH1	-	1	1	Anne-Françoise Roux
00407356	RP-95	PubMed: Borràs 2013	-	-	-	Spain	Spanish	-	-	-	-	retinal disease	-	1	1	LOVD
00447595	SRP-907	PubMed: Weisschuh 2024	patient, no family history	M	-	Germany	-	-	-	-	-	?	-	2	1	Johan den Dunnen
00447706	SRP-1166	PubMed: Weisschuh 2024	patient, no family history	F	-	Germany	-	-	-	-	-	?	-	1	1	Johan den Dunnen

Legend

How to query

Global Variome shared LOVD

PDZD7 (PDZ domain containing 7)