All individuals with variants in gene PEX1

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.

601 entries on 7 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6	7		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
00065231	Fam1PatII3	PubMed: Ratbi 2015, Journal: Ratbi 2015	2-generation family, affected brother/sister, unaffected heterozygous carrier parents	F	-	Morocco	-	>16y	-	-	-	HMLR1	Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), Severe sensorineural hearing impairment (HP:0008625), no Beau’s lines (-HP:?), no abnormality of the nail (-HP:0001597), no retinal pigmentation (-HP:0007703), no macular dystrophy (-HP:0007754)	1	2	Jamie Zeegers
00065261	Fam1PatII4	PubMed: Ratbi 2015, Journal: Ratbi 2015	-	M	-	Morocco	-	>12y	-	-	-	HMLR1	Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), Severe sensorineural hearing impairment (HP:0008625), no Beau’s lines (-HP:?), no abnormality of the nail (-HP:0001597), no retinal pigmentation (-HP:0007703), no macular dystrophy (-HP:0007754)	1	1	Jamie Zeegers
00065263	Fam2Pat1	PubMed: Ratbi 2015, Journal: Ratbi 2015	2-generation family, affected brother/sister, unaffected heterozygous carrier parents	M	no	United States	-	>31y	-	-	-	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), macular dystrophy (HP:0007754)	2	2	Jamie Zeegers
00065265	Fam2PatII2	PubMed: Ratbi 2015, Journal: Ratbi 2015	-	F	no	United States	-	>29y	-	-	-	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), macular dystrophy (HP:0007754)	2	1	Jamie Zeegers
00065270	Fam3PatII1	PubMed: Ratbi 2015, Journal: Ratbi 2015	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	no	Ireland	-	>19y	-	-	-	HMLR1	Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), profound sensorineural hearing impairment (HP:0011476), no Beau’s lines (-HP:?), no abnormality of the nail (-HP:0001597)	2	1	Jamie Zeegers
00065272	Fam4PatII1	PubMed: Ratbi 2015, Journal: Ratbi 2015	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	no	United Kingdom (Great Britain)	-	>24y	-	-	-	HMLR1	Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), Severe sensorineural hearing impairment (HP:0008625), no Beau’s lines (-HP:?), no abnormality of the nail (-HP:0001597), retinal pigmentation (HP:0007703), no macular dystrophy (-HP:0007754)	2	1	Jamie Zeegers
00072281	-	-	Parent of Heimler Syndrome patient	F	?	Morocco	-	-	-	-	-	Healthy/Control	Unaffected	1	5	Glenda Beaman
00072283	-	-	Parent of Heimler Syndrome patient	M	?	Morocco	-	-	-	-	-	Healthy/Control	Unaffected parent of Heimler Syndrome patient	1	1	Glenda Beaman
00072284	-	-	-	F	yes	Morocco	-	-	-	-	-	Healthy/Control	Unaffected sibling of Heimler Syndrome patient	1	1	Glenda Beaman
00072285	-	-	-	M	yes	Morocco	-	-	-	-	-	Healthy/Control	Unaffected sibling of Heimler Syndrome patient	1	1	Glenda Beaman
00072286	-	-	-	F	yes	Morocco	-	-	-	-	-	HMLR1	Heimler Syndrome patient; sensorineural hearing loss (HP:0000407), amelogenesis imperfecta (HP:0000705), nail abnormalities (HP:0001597)	1	1	Glenda Beaman
00081019	-	PubMed: Trujillano 2017	unaffected parents	-	-	-	-	-	-	-	-	PBD1A	Peroxisome biogenesis disorder 1A (Zellweger) (OMIM:214100)	1	1	Daniel Trujillano
00269115	-	-	-	F	-	-	-	-	-	-	-	?	Large fontanelles (HP:0000239); Low-set ears (HP:0000369); Deviation of finger (HP:0004097); Depressed nasal bridge (HP:0005280); Abnormality of the face (HP:0000271); Hypertelorism (HP:0000316); Abnormality of the hand (HP:0001155); Talipes equinovarus (HP:0001762); Wide cranial sutures (HP:0010537); Muscular hypotonia (HP:0001252)	1	1	Andreas Laner
00269902	-	-	-	?	-	-	-	-	-	-	-	?	Neonatal death (HP:0003811)	1	1	IMGAG
00283619	Pat719	PubMed: Yik 2009	-	-	-	-	-	-	-	-	-	PBD	-	2	1	Global Variome, with Curator vacancy
00283620	-	PubMed: Bean 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00283621	Pat627	PubMed: Yik 2009	-	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283622	-	PubMed: Ebberink 2011	-	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283623	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00283625	patient	PubMed: Rosewich 2005	-	-	-	-	-	-	-	-	-	PBD	zellweger syndrome	1	1	Global Variome, with Curator vacancy
00283630	ZS23	PubMed: Thoms 2011	-	-	-	Germany	-	-	-	-	-	PBD	-	2	1	Global Variome, with Curator vacancy
00283631	PatV,N	PubMed: Rosewich 2005	-	-	-	Germany	-	00y04m	-	-	-	PBD	4m-deceased; large fontanelle, wide sutures; high forehead; broad nasal bridge; hypertelorism; no epicanthus; external ear deformity; sickle foot; poor sucking; gavage feeding; hypotonia; severe psychomotor retardation; seizures; no cataract; no retinitis pigmentosa; optic atrophy; no nystagmus; no hepatomegaly; no liver fibrosis; raised liver enzymes; no renal cysts	2	1	Global Variome, with Curator vacancy
00283632	ZS22	PubMed: Thoms 2011	-	-	-	Germany	-	-	-	-	-	PBD	-	2	1	Global Variome, with Curator vacancy
00283633	-	PubMed: Mohebbi 2012	-	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283634	Pat616	PubMed: Yik 2009	-	-	-	United States	-	-	-	-	-	PBD	-	2	1	Global Variome, with Curator vacancy
00283637	ZS2	PubMed: Thoms 2011	-	-	-	Germany	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283640	-	PubMed: Ebberink 2011	-	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283641	-	, PubMed: Portsteffen 1997	-	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283642	ZS24	PubMed: Thoms 2011	-	-	-	Germany	-	-	-	-	-	PBD	-	2	1	Global Variome, with Curator vacancy
00283643	-	PubMed: Richards 2015	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00283646	Pat604	PubMed: Yik 2009	-	-	-	United States	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283648	-	PubMed: Ebberink 2011	-	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283649	-	PubMed: Ebberink 2011	-	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283654	ZS5	PubMed: Thoms 2011	-	-	-	Germany	-	-	-	-	-	PBD	-	2	1	Global Variome, with Curator vacancy
00283656	-	, PubMed: Gärtner 1999, PubMed: Waterham 2012, PubMed: Weleber 1993, PubMed: Bean 2013 1998, PubMed: Portsteffen 1997, PubMed: Steinberg 2006 2001, 2005,	-	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283657	PDB190	PubMed: Reuber 1997	-	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283660	PatG,D	PubMed: Rosewich 2005	-	-	-	Germany	-	-	-	-	-	PBD	large fontanelle, wide sutures; high forehead; broad nasal bridge; hypertelorism; epicanthus; no external ear deformity; no sickle foot; poor sucking; no gavage feeding; hypotonia; severe psychomotor retardation; no seizures; no cataract; no retinitis pigmentosa; optic atrophy; no nystagmus; no hepatomegaly; no liver fibrosis; raised liver enzymes; renal cysts	2	1	Global Variome, with Curator vacancy
00283661	-	PubMed: Ebberink 2011	-	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283662	-	PubMed: Ebberink 2011	-	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283664	-	PubMed: Bean 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00283665	ZS1	PubMed: Thoms 2011	-	-	-	Germany	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283666	-	PubMed: Ebberink 2011	-	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283667	-	PubMed: Richards 2015	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00283669	-	, PubMed: Bean 2013, PubMed: Heimler 1991, PubMed: Gärtner 1992, PubMed: Steinberg 2006, PubMed: Ratbi 2015	-	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283671	PatK,M	PubMed: Rosewich 2005	-	-	-	Germany	-	00y03m	-	-	-	PBD	3m-deceased; large fontanelle, wide sutures; high forehead; broad nasal bridge; hypertelorism; epicanthus; external ear deformity; sickle foot; poor sucking; gavage feeding; hypotonia; severe psychomotor retardation; seizures; hepatomegaly; no liver fibrosis; no raised liver enzymes; calcific stipling	1	1	Global Variome, with Curator vacancy
00283673	-	PubMed: Ebberink 2011	-	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283676	-	PubMed: Ebberink 2011	-	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283678	-	PubMed: Ebberink 2011	-	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283679	-	PubMed: Bean 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00283682	-	PubMed: Ebberink 2011	-	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283683	-	PubMed: Ebberink 2011	-	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283684	PatK,K	PubMed: Rosewich 2005	-	-	-	Germany	-	00y02m	-	-	-	PBD	2m-deceased; large fontanelle, wide sutures; high forehead; broad nasal bridge; hypertelorism; epicanthus; external ear deformity; sickle foot; poor sucking; gavage feeding; hypotonia; severe psychomotor retardation; seizures; hepatomegaly; liver fibrosis; raised liver enzymes; renal cysts	1	1	Global Variome, with Curator vacancy
00283685	Pat716	PubMed: Yik 2009	-	-	-	-	-	-	-	-	-	PBD	-	2	1	Global Variome, with Curator vacancy
00283686	-	PubMed: Ebberink 2011	-	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283689	-	PubMed: Ebberink 2011	-	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283694	-	PubMed: Ebberink 2011	-	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283696	-	PubMed: Ebberink 2011	-	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283697	ZS25	PubMed: Thoms 2011	-	-	-	Germany	-	-	-	-	-	PBD	-	2	1	Global Variome, with Curator vacancy
00283700	-	PubMed: Ebberink 2011	-	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283704	-	PubMed: Bean 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00283706	-	PubMed: Ebberink 2011	-	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283709	-	PubMed: Sun 2013, ,	-	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283711	ZS14	PubMed: Thoms 2011	-	-	-	Germany	-	-	-	-	-	PBD	-	3	1	Global Variome, with Curator vacancy
00283712	-	PubMed: Bean 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00283713	-	PubMed: Richards 2015	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00283718	-	PubMed: Sun 2013	-	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283721	-	PubMed: Fromer 2014	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00283723	-	PubMed: Bean 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00283724	PatG,A	PubMed: Rosewich 2005	-	-	-	Germany	-	01y11m	-	-	-	PBD	1y11m-deceased; high forehead; broad nasal bridge; hypertelorism; no epicanthus; external ear deformity; sickle foot; poor sucking; no gavage feeding; hypotonia; severe psychomotor retardation; no seizures; no cataract; no retinitis pigmentosa; no optic atrophy; no nystagmus; no hepatomegaly; no liver fibrosis; no raised liver enzymes	1	1	Global Variome, with Curator vacancy
00283725	ZS7	PubMed: Thoms 2011	-	-	-	Germany	-	-	-	-	-	PBD	-	2	1	Global Variome, with Curator vacancy
00283727	Pat707	PubMed: Yik 2009	-	-	-	United States	-	-	-	-	-	PBD	-	2	1	Global Variome, with Curator vacancy
00283728	ZS30	PubMed: Thoms 2011	-	-	-	Germany	-	-	-	-	-	PBD	-	2	1	Global Variome, with Curator vacancy
00283729	-	PubMed: Ebberink 2011	-	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00283730	ZS15	PubMed: Thoms 2011	-	-	-	Germany	-	-	-	-	-	PBD	-	2	1	Global Variome, with Curator vacancy
00283733	-	PubMed: Ebberink 2011	-	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00289016	Fam23P27	PubMed: Karali 2019, Journal: Karali 2019	-	F	no	Italy	-	-	-	-	-	retinal disease	RP, night blindness, pericentral field loss	2	1	Sandro Banfi
00294515	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00299641	FamGC3626Pat2	PubMed: Arno 2017	2-generation family, 1 affeted	M	-	-	-	-	-	-	-	retinal disease	see paper; ..., 29y-photopsia (HP:0030786), slightly reduced acuity (HP:0007663), mild nyctalopia (HP:0000662); irregular pigmented lesions in periphery(HP:0007703), pale discs (HP:0000543), cystoid macular edema (HP:0011505), peripheral telangiectasia (HP:0007763) with some retinal edema (HP:0020120) and vitreous cells (HP:0004327), possible para-arteriolar sparing; 29y-ERG no identifiable responses other than a minimal, delayed response to 30Hz flicker (PERG, EOG and ERG tested), severe photoreceptor dysfunction; 29y-colour vision Ishihara 15/15 each eye; 29y-Goldmann visual fields ring scotoma at 30 degrees, binocular Esterman age 36: central 20 degrees only retained; presenting VA logMAR (Snellen) R 0.48 (20/60), L 0.3 (20/40); latest VA logMAR R 1.8 (20/1250), L 1.5 (20/630); latest refractive error, dioptres R -1.00/-1.00x5, L +0.75/-1.00x90	1	1	Johan den Dunnen
00306140	77	-	-	M	-	China	-	-	-	-	-	PBD1A	-	2	1	Sha Hong
00310375	PBD045	PubMed: Collins 1999	-	-	-	-	-	-	-	-	-	PBD	see paper; ...	1	1	Nancy Braverman
00310376	Pat3822	PubMed: Maxwell 1999	-	-	-	-	-	-	-	-	-	PBD	see paper; ...	1	1	Nancy Braverman
00310377	Pat4307	PubMed: Maxwell 2002	-	-	-	-	-	-	-	-	-	PBD	see paper; ...	1	1	Nancy Braverman
00310378	Pat5162	PubMed: Maxwell 2002	-	-	-	-	-	-	-	-	-	PBD	see paper; ...	1	1	Nancy Braverman
00310379	Pat4936	PubMed: Maxwell 2002	-	-	-	-	-	-	-	-	-	PBD	see paper; ...	1	1	Nancy Braverman
00310380	Pat15	PubMed: Maxwell 2002	-	-	-	-	-	-	-	-	-	PBD	see paper; ...	1	1	Nancy Braverman
00310381	Pat1899	PubMed: Maxwell 2002	-	-	-	-	-	-	-	-	-	PBD	see paper; ...	1	1	Nancy Braverman
00310382	-	PubMed: Steinberg 2004	-	-	-	-	-	-	-	-	-	PBD	see paper; ...	1	1	Nancy Braverman
00310383	-	PubMed: Steinberg 2004	-	-	-	-	-	-	-	-	-	PBD	see paper; ...	1	1	Nancy Braverman
00310384	-	PubMed: Steinberg 2004	-	-	-	-	-	-	-	-	-	PBD	see paper; ...	1	1	Nancy Braverman
00310385	-	PubMed: Steinberg 2004	-	-	-	-	-	-	-	-	-	PBD	see paper; ...	1	1	Nancy Braverman
00310386	-	PubMed: Steinberg 2004	-	-	-	-	-	-	-	-	-	PBD	see paper; ...	1	1	Nancy Braverman
00310387	-	PubMed: Steinberg 2004	-	-	-	-	-	-	-	-	-	PBD	see paper; ...	1	1	Nancy Braverman
00310388	PBD036	PubMed: Collins 1999	-	-	-	-	-	-	-	-	-	PBD	see paper; ...	1	1	Nancy Braverman
00310389	PBD184	PubMed: Collins 1999	-	-	-	-	-	-	-	-	-	PBD	see paper; ...	1	1	Nancy Braverman
00310390	PBD186	PubMed: Collins 1999	-	-	-	-	-	-	-	-	-	PBD	see paper; ...	1	1	Nancy Braverman
00310391	PBD193	PubMed: Collins 1999	-	-	-	-	-	-	-	-	-	PBD	see paper; ...	1	1	Nancy Braverman
00310392	Pat4065	PubMed: Maxwell 2002	-	-	-	-	-	-	-	-	-	PBD	see paper; ...	1	1	Nancy Braverman
00310393	PatG003	PubMed: Preuss 2002	-	-	-	Germany	-	-	-	-	-	PBD	see paper; ...	1	1	Nancy Braverman
00310394	PatG011	PubMed: Preuss 2002	-	-	-	Germany	-	-	-	-	-	PBD	see paper; ...	2	1	Nancy Braverman
00310395	Pat17	PubMed: Walter 2001	-	-	-	-	-	-	-	-	-	PBD	see paper; ...	1	1	Nancy Braverman

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Global Variome shared LOVD

PEX1 (peroxisomal biogenesis factor 1)