All individuals with variants in gene PEX6

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.

174 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	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00050127	-	article in revision at "Human Mutation"	-	-	yes	Egypt	-	-	-	-	PBD	-	1	2	Hanno Bolz
00051496	-	F131	-	F	yes	Turkey	-	-	-	-	PBD-4B	PBD-4B (Moderate)	1	1	Claire Guissart
00051497	-	F131	-	M	yes	Turkey	-	-	-	-	PBD-4B	PBD-4B (moderate)	1	1	Claire Guissart
00065273	Fam5PatII2	PubMed: Ratbi 2015, Journal: Ratbi 2015	2-generation family, 2 affected sisters, unaffected heterozygous carrier parents	F	no	United Kingdom (Great Britain)	-	>21y	-	-	HMLR1	Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), profound sensorineural hearing impairment (HP:0011476), Beau’s lines (-HP:?), onychoschizia (HP:?), retinal pigmentation (HP:0007703), no macular dystrophy (-HP:0007754)	2	2	Jamie Zeegers
00065274	Fam5PatII3	PubMed: Ratbi 2015, Journal: Ratbi 2015	-	F	no	United Kingdom (Great Britain)	-	>16y	-	-	HMLR1	Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), severe sensorineural hearing impairment (HP:0008625), Beau’s lines (-HP:?), onychoschizia (HP:?), retinal pigmentation (HP:0007703), no macular dystrophy (-HP:0007754)	2	1	Jamie Zeegers
00065275	Fam6PatII1	PubMed: Ratbi 2015, Journal: Ratbi 2015	2-generation family, twin sisters, unaffected heterozygous carrier parents	F	no	United Kingdom (Great Britain)	-	>21y	-	-	HMLR1	Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), profound sensorineural hearing impairment (HP:0011476), Beau’s lines (-HP:?), leukonychia (HP:0001820), retinal pigmentation (HP:0007703), no macular dystrophy (HP:0007754)	2	2	Jamie Zeegers
00065276	Fam6PatII2	PubMed: Ratbi 2015, Journal: Ratbi 2015	-	F	no	United Kingdom (Great Britain)	-	>21y	-	-	HMLR1	Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), profound sensorineural hearing impairment (HP:0011476), Beau’s lines (-HP:?), leukonychia (HP:0001820), retinal pigmentation (HP:0007703), no macular dystrophy (HP:0007754)	2	1	Jamie Zeegers
00080829	-	PubMed: Trujillano 2017	unaffected parents	-	-	-	-	-	-	-	PBD4A	Peroxisomebiogenesis disorder 4A (OMIM:614862)	1	1	Daniel Trujillano
00208599	Fam301	-	-	-	-	-	-	-	-	-	cancer, colon	-	1	3	Xiang Jiao
00282363	-	PubMed: Nobukuni 1996, PubMed: Lalwani 1998, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	WS	-	1	1	Global Variome, with Curator vacancy
00283299	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283301	-	PubMed: Xiong 2015	-	-	-	Japan	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283302	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283305	Pat713	PubMed: Yik 2009	-	-	-	United States	-	-	-	-	PBD	-	2	1	Global Variome, with Curator vacancy
00283306	Pat720	PubMed: Yik 2009	-	-	-	United States	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283307	Pat609	PubMed: Yik 2009	-	-	-	United States	-	-	-	-	PBD	-	2	1	Global Variome, with Curator vacancy
00283308	FamPatII1	PubMed: Raas-Rothschild 2002	2-generation family, 3 affected, parents and son; son	M	-	Israel	Algeria;Jewish-Ashkenazi;Jewish-Yemenite	-	-	-	PBD	see paper; ...	2	3	Nancy Braverman
00283309	-	PubMed: Xiong 2015	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283310	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283311	C-05	PubMed: Zhang 1999	-	-	-	Japan	-	-	-	-	PBD	-	2	1	Nancy Braverman
00283312	C-14	PubMed: Zhang 1999	-	-	-	Japan	-	-	-	-	PBD	-	1	1	Nancy Braverman
00283313	PBD106	PubMed: Yahraus 1996	-	-	-	-	-	-	-	-	PBD	-	2	1	Global Variome, with Curator vacancy
00283314	PBD6-01	PubMed: Matsumoto 2001	-	-	-	Japan	-	-	-	-	PBD	-	3	1	Nancy Braverman
00283317	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283321	-	PubMed: Krause 2009	-	-	-	-	-	-	-	-	PBD	-	1	1	Johan den Dunnen
00283323	PatII1m	PubMed: Raas-Rothschild 2002	mother	F	-	Israel	Algeria;Jewish-Ashkenazi	-	-	-	PBD	see paper; ...	3	1	Nancy Braverman
00283324	-	PubMed: Krause 2009	-	-	-	-	-	-	-	-	PBD	-	1	1	Johan den Dunnen
00283332	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283334	-	PubMed: Grunert 2014	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00283335	PatII1f	PubMed: Raas-Rothschild 2002	father	M	-	Israel	Yemenite;Jewish	-	-	-	PBD	see paper; ...	1	1	Nancy Braverman
00283338	C-03	PubMed: Zhang 1999	-	-	-	Japan	-	-	-	-	PBD	-	1	1	Nancy Braverman
00283339	-	PubMed: Najmabadi 2011	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283346	-	PubMed: Bean 2013	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283348	C-10	PubMed: Zhang 1999	-	-	-	Japan	-	-	-	-	PBD	-	1	1	Nancy Braverman
00283351	Pat2	PubMed: Fukuda 1996	-	F	-	Japan	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283352	-	PubMed: Ebberink 2010, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283353	-	PubMed: Xiong 2015	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283354	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283355	Pat710	PubMed: Yik 2009	-	-	-	United States	-	-	-	-	PBD	-	3	1	Global Variome, with Curator vacancy
00283356	C-09	PubMed: Zhang 1999	-	-	-	Japan	-	-	-	-	PBD	-	1	1	Nancy Braverman
00283361	C-15	PubMed: Zhang 1999	-	-	-	Japan	-	-	-	-	PBD	-	1	1	Nancy Braverman
00283362	-	PubMed: Matsumoto 2001, PubMed: Levesque 2012	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00283363	C-07	PubMed: Zhang 1999	-	-	-	Japan	-	-	-	-	PBD	-	1	1	Nancy Braverman
00283364	-	-	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283365	-	PubMed: Bean 2013	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00283367	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283368	-	PubMed: Richards 2015	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00283372	-	PubMed: Al-Gazali 2010	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283374	C-02	PubMed: Zhang 1999	-	-	-	Japan	-	-	-	-	PBD	-	1	1	Nancy Braverman
00283376	Pat1/GM04340	PubMed: Fukuda 1996	-	-	yes	Japan	-	-	-	-	PBD	-	1	1	Nancy Braverman
00283377	-	PubMed: Grunert 2014	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00283378	C-12	PubMed: Zhang 1999	-	-	-	Japan	-	-	-	-	PBD	-	1	1	Nancy Braverman
00283379	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283380	controls	PubMed: Steinberg 2004	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00283381	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	PBD	-	2	1	Global Variome, with Curator vacancy
00283382	C-13	PubMed: Zhang 1999	-	-	-	Japan	-	-	-	-	PBD	-	2	1	Global Variome, with Curator vacancy
00283384	C-11	PubMed: Imamura 2000	-	-	-	Japan	-	-	-	-	PBD	-	1	1	Nancy Braverman
00283385	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283386	controls	PubMed: Steinberg 2004	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00289433	-	-	-	F	-	-	-	-	-	-	?	Muscular hypotonia (HP:0001252); Multicystic kidney dysplasia (HP:0000003); Syndactyly (HP:0001159); Seizures (HP:0001250); Failure to thrive (HP:0001508); Retrognathia (HP:0000278); Low-set ears (HP:0000369); Hypertelorism (HP:0000316); Joint hypermobility (HP:0001382); Rocker bottom foot (HP:0001838)	1	1	IMGAG
00294108	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	?	-	1	138	Mohammed Faruq
00294109	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	?	-	1	1	Mohammed Faruq
00294110	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	?	-	1	10	Mohammed Faruq
00305102	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	?	-	1	2	Mohammed Faruq
00309298	-	PubMed: Sharon 2019	3 IRD families	-	-	Israel	-	-	-	-	retinal disease	-	1	3	Global Variome, with Curator vacancy
00310099	patient	PubMed: Konkolova 2015	2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	M	-	Slovakia (Slovak Republic)	white	-	-	-	PBD	see paper; ...	2	1	Johan den Dunnen
00310104	Pat1	PubMed: Falkenberg 2017	-	-	-	-	-	-	-	-	PBD	see paper; ...	2	1	Johan den Dunnen
00310105	Pat2	PubMed: Falkenberg 2017	2-generation family, 1 affected, unaffected heterozygous carrier mother/half-brother	-	-	-	-	-	-	-	PBD	see paper; ...	2	2	Johan den Dunnen
00310106	Pat3	PubMed: Falkenberg 2017	-	-	-	-	-	-	-	-	PBD	see paper; ...	2	1	Johan den Dunnen
00310107	Pat4	PubMed: Falkenberg 2017	-	-	-	-	-	-	-	-	PBD	see paper; ...	2	1	Johan den Dunnen
00310108	Pat5	PubMed: Falkenberg 2017	-	-	-	-	-	-	-	-	PBD	see paper; ...	2	1	Johan den Dunnen
00310109	Pat6	PubMed: Falkenberg 2017	-	-	-	-	-	-	-	-	PBD	see paper; ...	2	1	Johan den Dunnen
00310110	Pat7	PubMed: Falkenberg 2017	-	-	-	-	-	-	-	-	PBD	see paper; ...	2	1	Johan den Dunnen
00310111	Pat2m	PubMed: Falkenberg 2017	mother Pat2	F	-	-	-	-	-	-	Healthy/Control	-	4	1	Johan den Dunnen
00310113	-	PubMed: Krause 2009	-	-	-	-	-	-	-	-	PBD	see paper; ...	1	1	Nancy Braverman
00310114	-	PubMed: Krause 2009	-	-	-	-	-	-	-	-	PBD	see paper; ...	1	1	Nancy Braverman
00310115	-	PubMed: Krause 2009	-	-	-	-	-	-	-	-	PBD	see paper; ...	1	1	Nancy Braverman
00310116	-	PubMed: Krause 2009	-	-	-	-	-	-	-	-	PBD	see paper; ...	1	1	Nancy Braverman
00310117	-	-	-	-	-	United States	-	-	-	-	PBD	see paper; ...	1	1	Nancy Braverman
00310118	-	-	-	-	-	-	-	-	-	-	PBD	see paper; ...	1	1	Nancy Braverman
00310120	-	-	-	-	-	United States	-	-	-	-	PBD	see paper; ...	1	1	Nancy Braverman
00310121	-	-	-	-	-	United States	-	-	-	-	PBD	see paper; ...	1	1	Nancy Braverman
00310122	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	PBD	see paper; ...	1	1	Nancy Braverman
00310123	-	-	-	-	-	United States	-	-	-	-	PBD	see paper; ...	1	1	Nancy Braverman
00310124	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Nancy Braverman
00310127	-	-	-	-	-	United States	-	-	-	-	PBD	see paper; ...	1	1	Nancy Braverman
00310129	-	-	-	-	-	United States	-	-	-	-	PBD	see paper; ...	1	1	Nancy Braverman
00310130	-	-	-	-	-	United States	-	-	-	-	PBD	see paper; ...	2	1	Nancy Braverman
00310131	-	-	-	-	-	United States	-	-	-	-	PBD	see paper; ...	1	1	Nancy Braverman
00310132	patient	-	-	-	-	-	-	-	-	-	PBD	see paper; ...	3	1	Nancy Braverman
00310133	-	-	-	-	-	United States	-	-	-	-	PBD	see paper; ...	1	1	Nancy Braverman
00310134	-	-	-	-	-	United States	-	-	-	-	PBD	see paper; ...	2	1	Nancy Braverman
00310136	-	-	-	-	-	United States	-	-	-	-	PBD	see paper; ...	1	1	Nancy Braverman
00310137	-	-	-	-	-	United States	-	-	-	-	PBD	see paper; ...	2	1	Nancy Braverman
00310138	-	-	-	-	-	United States	-	-	-	-	PBD	see paper; ...	2	1	Nancy Braverman
00310139	patient	-	-	-	-	United States	-	-	-	-	PBD	see paper; ...	3	1	Nancy Braverman
00310140	-	-	-	-	-	United States	-	-	-	-	PBD	see paper; ...	2	1	Nancy Braverman
00310141	-	-	-	-	-	United States	-	-	-	-	PBD	see paper; ...	1	1	Nancy Braverman
00310142	-	-	-	-	-	United States	-	-	-	-	Healthy/Control	-	1	1	Nancy Braverman
00310143	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Nancy Braverman

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Global Variome shared LOVD

PEX6 (peroxisomal biogenesis factor 6)