All individuals with variants in gene EMC1

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.

55 entries on 1 page. Showing entries 1 - 55.

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
00059791	-	PubMed: Abu-Safieh-2013	-	-	-	-	-	-	-	-	-	RP	-	1	1	Leen Abu Safieh
00065235	26942288 F1 A3	PubMed: Harel 2016, Journal: Harel 2016	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	?	-	European	>04y	-	-	-	DD	Global developmental delay (HP:0001263), Delayed speech and language development (HP:0000750), Seizures (HP:0001250), Scoliosis (HP:0002650), no microcephaly (Z score -1.6) (-HP:0000252), Short upper lip (HP:0000188), Mild hypertelorism (HP:0000316), retrognathia (HP:0000278), Muscular hypotonia of the trunk (HP:0008936), Limb hypertonia (HP:0002509), Hyporeflexia (HP:0001265), Dystonic posturing (HP:0002533), Cortical visual impairment (HP:0100704), Cerebellar atrophy (HP:0001272), Cerebral atrophy (HP:0002059), Corpus callosum atrophy (HP:0007371), laryngotracheomalacia (HP:0008755), Anal atresia (HP:0002023)	1	1	Pieter Klap
00065236	26942288 F2 BAB3445	PubMed: Harel 2016, Journal: Harel 2016	3-generation family, 4 affecteds (2F, 2M), unaffected heterozygous carrier parents	M	yes	Turkey	-	>13y	-	-	-	DD	Global developmental delay (HP:0001263), Delayed speech and language development (HP:0000750), Scoliosis (HP:0002650), Microcephaly (Z score -4) (HP:0000252), Deeply set eye (HP:0000490), Gingival overgrowth (HP:0000212), Short philtrum (HP:0000322), Retrognathia (HP:0000278), Prominent fingertip pads (HP:0001212), Muscular hypotonia of the trunk (HP:0008936), Limb hypertonia (HP:0002509), Hyporeflexia (HP:0001265), Dystonic posturing (HP:0002533), Abnormality of visual evoked potentials (HP:0000649), Abnormal electroretinogram (HP:0000512), Cerebellar atrophy (HP:0001272), Cerebral atrophy (HP:0002059), Corpus callosum atrophy (HP:0007371)	1	4	Pieter Klap
00065237	26942288 F2 BAB3446	PubMed: Harel 2016, Journal: Harel 2016	brother	M	yes	Turkey	-	>05y	-	-	-	DD	Global developmental delay (HP:0001263), Delayed speech and language development (HP:0000750), no seizures (-HP:0001250), Scoliosis (HP:0002650), Microcephaly (Z score -3.8) (HP:0000252), Deeply set eye (HP:0000490), Gingival overgrowth (HP:0000212), Short philtrum (HP:0000322), Retrognathia (HP:0000278), Prominent fingertip pads (HP:0001212), Muscular hypotonia of the trunk (HP:0008936), Limb hypertonia (HP:0002509), Hyporeflexia (HP:0001265), Dystonic posturing (HP:0002533), Abnormality of visual evoked potentials (HP:0000649), Abnormal electroretinogram (HP:0000512), Cerebellar atrophy (HP:0001272), Cerebral atrophy (HP:0002059), Corpus callosum atrophy (HP:0007371)	1	1	Pieter Klap
00065238	26942288 F2 BAB4742	PubMed: Harel 2016, Journal: Harel 2016	niece	F	yes	Turkey	-	>03y	-	-	-	DD	Global developmental delay (HP:0001263), Delayed speech and language development (HP:0000750), Scoliosis (HP:0002650), Microcephaly (Z score -3.3) (HP:0000252), Deeply set eye (HP:0000490), Gingival overgrowth (HP:0000212), Short philtrum (HP:0000322), Retrognathia (HP:0000278), Prominent fingertip pads (HP:0001212), Muscular hypotonia of the trunk (HP:0008936), Limb hypertonia (HP:0002509), Hyporeflexia (HP:0001265), Dystonic posturing (HP:0002533), Abnormality of visual evoked potentials (HP:0000649), Abnormal electroretinogram (HP:0000512), Cerebellar atrophy (HP:0001272), Cerebral atrophy (HP:0002059), Corpus callosum atrophy (HP:0007371)	1	1	Pieter Klap
00065240	26942288 F3 BAB6896	PubMed: Harel 2016, Journal: Harel 2016	2-generation family, 2 affected brotherss, unaffected heterozygous carrier parents	M	yes	Saudi Arabia	-	>10y	-	-	-	DD	Global developmental delay (HP:0001263), Delayed speech and language development (HP:0000750), no seizures (-HP:0001250), no scoliosis (-HP:0002650), no microcephaly (Z score 0) (-HP:0000252), Deeply set eye (HP:0000490), retrognathia (HP:0000278), Muscular hypotonia of the trunk (HP:0008936), no limb hypertonia (-HP:0002509), no dystonic posturing (-HP:0002533), esotropia (HP:0000565), Hypermetropia (HP:0000540), Astigmatism (HP:0000483), Cerebellar atrophy (HP:0001272), no cerebral atrophy (-HP:0002059), Corpus callosum atrophy (HP:0007371)	1	2	Pieter Klap
00065241	26942288 F3 BAB6897	PubMed: Harel 2016, Journal: Harel 2016	brother	M	yes	Saudi Arabia	-	>12y	-	-	-	DD	Global developmental delay (HP:0001263), Delayed speech and language development (HP:0000750), no seizures (-HP:0001250), no scoliosis (-HP:0002650), no microcephaly (Z score 0) (-HP:0000252), Deeply set eye (HP:0000490), no muscular hypotonia of the trunk (-HP:0008936), no limb hypertonia (-HP:0002509), no hyporeflexia (-HP:0001265), no dystonic posturing (-HP:0002533)	1	1	Pieter Klap
00065242	26942288 F4 BH14387_1	PubMed: Harel 2016, Journal: Harel 2016	2-generation family, 1 affected, unaffected non-carrier parents	M	no	-	-	>12y	-	-	-	DD	Global developmental delay (HP:0001263), Delayed speech and language development (HP:0000750), no seizures (-HP:0001250), Scoliosis (HP:0002650), no microcephaly (Z score -0.34) (-HP:0000252), Low anterior hairline (HP:0000294), Abnormality of the pinna (HP:0000377), Gingival overgrowth (HP:0000212), Micrognathia (HP:0000347), Muscular hypotonia of the trunk (HP:0008936), no limb hypertonia (-HP:0002509), Hyporeflexia (HP:0001265), no dystonic posturing (-HP:0002533), Myopia (HP:0000545), Optic atrophy (HP:0000648), Cerebellar atrophy (HP:0001272), mild cerebral atrophy (HP:0002059), Corpus callosum atrophy (HP:0007371), Vitiligo (HP:0001045),	1	1	Pieter Klap
00103210	proband	-	-	M	yes	India	Indian	-	-	yes	-	CAVIPMR	-	1	1	MedGenome_db
00103891	28327206-PatBH4387_1	PubMed: Eldomery 2017, Journal: Eldomery 2017	-	-	-	United States	-	-	-	-	-	?	developmental delay, cerebellar atrophy, scoliosis	1	1	Johan den Dunnen
00143915	-	PubMed: Katagiri 2014	index patient	F	no	Japan	Japanese	-	-	-	-	retinal disease	-	1	1	Rob W.J. Collin
00144156	-	PubMed: Katagiri 2014	index patient	F	no	Japan	Japanese	-	-	-	-	retinal disease	-	1	1	Rob W.J. Collin
00231855	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00231856	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00231857	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00231858	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00231859	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	9	Yoshito Koyanagi
00231860	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00231861	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	14	Yoshito Koyanagi
00231862	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00231863	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	2	Yoshito Koyanagi
00231864	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00231865	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00231866	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00231867	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	2	Yoshito Koyanagi
00231868	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00231869	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	230	Yoshito Koyanagi
00231870	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	450	Yoshito Koyanagi
00231871	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00231872	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	141	Yoshito Koyanagi
00231873	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00231874	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	2	Yoshito Koyanagi
00231875	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00231876	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00231877	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00231878	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	451	Yoshito Koyanagi
00231879	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	6	Yoshito Koyanagi
00231880	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233586	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233587	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233588	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	26	Yoshito Koyanagi
00233589	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	675	Yoshito Koyanagi
00233590	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	9	Yoshito Koyanagi
00233591	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	675	Yoshito Koyanagi
00324526	patient	PubMed: Kominami 2019, PubMed: Kominami 2017, Journal: Kominami 2017	2-generation family, 1 affected, unaffected parents	M	no	Japan	-	>20y	-	-	-	COD	see paper; ..., decreased central vision (HP:0007663), extreme photophobia (HP:0000613), progressive visual loss in both eyes (HP:0000529), dyschromatopsia (HP:0007641), absent rod-and cone-mediated responses on ERG (HP:0007688)	1	1	Najlae Akhiyate
00358974	Case71749	PubMed: Tiwari 2016	see paper	F	-	Switzerland	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00375414	RP#006	PubMed: Katagiri 2014	family	-	-	Japan	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00375416	RP#008	PubMed: Katagiri 2014	family	-	-	Japan	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00375430	RP#024	PubMed: Katagiri 2014	family	-	-	Japan	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00377531	EYE139	PubMed: Hosono 2018	proband, family EYE139	M	no	Japan	Asian	-	-	-	-	retinal disease	see paper	1	1	LOVD
00377533	EYE152	PubMed: Hosono 2018	proband, family EYE152	F	no	Japan	Asian	-	-	-	-	retinal disease	see paper	1	1	LOVD
00399788	IV:1	PubMed: Bhatia 2019	-	F	yes	-	India	-	-	-	-	retinal disease	attenuated retinal bloodvessels and diffuse temporal pallor of the optic disc with evidence of diffuse RPE changes and dull foveal reflex	1	1	LOVD
00410967	IV.1	PubMed: Geetha-2018	-	F	yes	(India)	-	-	-	-	-	retinal disease	early infantile onset epilepsy, scaphocephaly, developmental delay, central hypotonia, muscle wasting, and severe cerebellar and brainstem atrophy	2	1	LOVD
00410968	II.2	PubMed: Cabet-2020	-	M	no	(France)	-	-	-	-	-	retinal disease	low anterior hairline, development delay, severe intellectual disability, autism spectrum disorder, strabismus, global hypotonia, bifid uvula	2	1	LOVD
00413461	FamHXPatI	-	-	F	no	New Zealand	NZ Maori/Samoan	07y	-	-	-	CAVIPMR	-	2	1	Sandra Cooper

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Global Variome shared LOVD

EMC1 (ER membrane protein complex subunit 1)