All individuals with variants in gene INPP5E

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.

65 entries on 1 page. Showing entries 1 - 65.

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
00028924	1-52 Pat13	PubMed: Kroes 2016	-	-	-	-	Europe-N	-	-	-	-	JBTS1	-	1	1	Sanne Savelberg
00028925	2-44 Pat14	PubMed: Kroes 2016	-	-	-	-	Europe-N	-	-	-	-	JBTS1	-	1	1	Sanne Savelberg
00269771	Fam1	PubMed: Tsurusaki 2013	2-generation family, 2 affected sisters, unaffected heterozygous carrier parents	F	-	Japan	-	-	-	-	-	JBTS	see paper; ...	2	2	Johan den Dunnen
00294807	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00309200	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00331983	Pat121	PubMed: Birtel 2018	patient	F	-	Germany	-	-	-	-	-	retinal disease	reduced visual acuity; scotopic ERG borderline; photopic ERG borderline	2	1	LOVD
00332281	Fam18PatFBP_53	PubMed: Porto 2017	proband	-	-	Brazil	-	-	-	-	-	retinal disease	-	2	1	LOVD
00333841	37	PubMed: Stone 2017	1 affected	F	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA1a	2	1	LOVD
00333926	349	PubMed: Stone 2017	1 affected	F	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA1b	2	1	LOVD
00334100	634	PubMed: Stone 2017	family, 2 affected	M	-	(United States)	-	-	-	-	-	retinal disease	clinical category IB5	2	2	LOVD
00335977	-	PubMed: Sergouniotis 2016	analysis 486 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	-	1	1	LOVD
00358844	Fam1Pat1	PubMed: Suzuki 2016	family, 2 affected siblings	-	no	Japan	-	-	-	-	-	JBTS	moderate intellectual disability; moderate developmental delay; hypotonia, ataxia; retina problems; no coloboma; no kidney problems; no liver symptoms; no encephalocele; no polydactyly	2	2	LOVD
00358862	Fam22	PubMed: Suzuki 2016	-	-	no	Japan	-	-	-	-	-	JBTS	severe intellectual disability; severe developmental delay; hypotonia, ataxia; no retina problems; no coloboma; kidney problems; liver symptoms; no encephalocele; no polydactyly	2	1	LOVD
00358869	Fam1Pat2	PubMed: Suzuki 2016	sibling	-	no	Japan	-	-	-	-	-	JBTS	moderate intellectual disability; moderate developmental delay; hypotonia, ataxia, neonatal dysregulated breathing; retina problems; no coloboma; no kidney problems; liver symptoms; no encephalocele; no polydactyly	2	1	LOVD
00358971	Case70946	PubMed: Tiwari 2016	see paper	F	-	Switzerland	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00372274	UW011-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372275	UW107-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372276	UW107-4	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372277	UW208-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372278	UW214-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372279	UW214-4	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372280	UW217-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372281	UW235-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372282	UW238-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	1	1	LOVD
00372283	UW289-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	1	1	LOVD
00372284	UW294-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372510	130	PubMed: Wang 2015	index case	-	-	China	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00372521	RP374	PubMed: Xu 2015	2-generation family, 1 affected, unaffected parents	F	-	China	-	-	-	-	-	retinal disease	see paper; ...	2	1	Johan den Dunnen
00373399	2-42	PubMed: Kroes 2016	-	-	-	-	Europe-N	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00377671	372	PubMed: Brooks 2018	family 62	M	-	United States	-	-	-	-	-	retinal disease	kidney disease, oculomotor apraxia, nystagmus, strabismus, coloboma - retina, iris, optic nerve, vessel attenuation	2	1	LOVD
00377672	352	PubMed: Brooks 2018	family 63	M	-	United States	-	-	-	-	-	retinal disease	liver disease, kidney disease, oculomotor apraxia, nystagmus, strabismus, ptosis, retinal degeneration, optic nerve atrophy	2	1	LOVD
00377673	7504	PubMed: Brooks 2018	family 64	F	-	United States	-	-	-	-	-	retinal disease	oculomotor apraxia, nystagmus, retinal degeneration, vessel attenuation, optic nerve atrophy	1	1	LOVD
00377674	7503	PubMed: Brooks 2018	family 64	F	-	United States	-	-	-	-	-	retinal disease	oculomotor apraxia, nystagmus, ptosis, retinal degeneration, vessel attenuation, optic nerve atrophy	1	1	LOVD
00381240	-	PubMed: Wang-2013	patient carry homozygous novel missense mutation in other retinal disease genes,Joubert syndrome	-	no	-	-	-	-	-	-	retinal disease	-	1	1	Julia Lopez
00383655	4	PubMed: Manara 2019	-	F	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383701	Fam2_V-1	PubMed: Khan 2019	Family 2, individual V-1	M	yes	Pakistan	-	-	-	-	-	retinal disease	-	1	8	LOVD
00383702	Fam2_VI-2	PubMed: Khan 2019	Family 2, individual VI-2	M	yes	Pakistan	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383703	Fam2_VI-3	PubMed: Khan 2019	Family 2, individual VI-3	F	yes	Pakistan	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383704	Fam2_VI-6	PubMed: Khan 2019	Family 2, individual VI-6	M	yes	Pakistan	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383705	Fam2_VI-9	PubMed: Khan 2019	Family 2, individual VI-9	M	yes	Pakistan	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383706	Fam2_VI-10	PubMed: Khan 2019	Family 2, individual VI-10	M	yes	Pakistan	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383707	Fam2_VI-11	PubMed: Khan 2019	Family 2, individual VI-11	M	yes	Pakistan	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383708	Fam2_VI-12	PubMed: Khan 2019	Family 2, individual VI-12	M	yes	Pakistan	-	-	-	-	-	retinal disease	-	1	1	LOVD
00387539	-	PubMed: Knopp 2015	-	M	yes	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00388139	7503	PubMed: Summers 2017	-	-	-	United States	-	-	-	-	-	retinal disease	-	1	1	LOVD
00388140	7504	PubMed: Summers 2017	-	-	-	United States	-	-	-	-	-	retinal disease	-	1	1	LOVD
00390833	-	PubMed: Toma-2018	each of the variants was inherited by one healthy parent	F	-	-	Italian	-	-	-	-	retinal disease	molar tooth sign, Retinal dystrophy	2	1	LOVD
00390834	-	PubMed: Toma-2018	sister of patient 1	F	-	-	Italian	-	-	-	-	retinal disease	molar tooth sign, Retinal dystrophy	2	1	LOVD
00390837	-	PubMed: Toma-2018	-	M	-	-	Italian	-	-	-	-	retinal disease	molar tooth sign, Retinal dystrophy	1	1	LOVD
00395562	RP-0247	PubMed: Perea-Romero 2021	-	-	-	Spain	-	-	-	-	-	retinal disease	astigmatism, hypermetropia, oculomotor apraxia, photophobia, posterior subcapsular cataract, rod-cone dystrophy, intellectual disability, language impairment, dysmetria, small angioma	1	1	LOVD
00397842	2	PubMed: Sonmez 2020	-	-	-	Turkey	-	-	-	-	-	retinal disease	end-stage renal disease at young age	1	1	LOVD
00415263	18	PubMed: Alfares 2018	-	F	-	-	-	-	-	-	-	retinal disease	OMIM: 213300; global developmental delay, hypotonia, and dysmorphic child	1	1	LOVD
00449800	-	-	-	F	-	- (not applicable)	white	-	-	-	-	JBTS	HP:0001249, HP:0001252, HP:0000271, HP:0000505, HP:0000239, HP:0000107, HP:0001407	2	1	Marketa Wayhelova
00454676	FamAPatII-1	PubMed: Sangermano 2021	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	-	Asia	-	-	-	-	retinal disease	see paper; ...	2	1	Johan den Dunnen
00454677	FamBPatII-4	PubMed: Sangermano 2021	2-generation family, affected sister/brother, unaffected heterozygous carrier parents	F	yes	-	Arab	-	-	-	-	retinal disease	see paper; ...	1	2	Johan den Dunnen
00454678	FamCPatII-1	PubMed: Sangermano 2021	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	Portugal	white	-	-	-	-	retinal disease	see paper; ...	1	1	Johan den Dunnen
00454679	FamDPatII-4	PubMed: Sangermano 2021	2-generation family, affected brother/sister, unaffected heterozygous carrier parents	F	yes	Portugal	white	-	-	-	-	retinal disease	see paper; ...	1	2	Johan den Dunnen
00454680	FamEPatII-4	PubMed: Sangermano 2021	2-generation family, 2 affected sisters, unaffected heterozygous carrier parents	F	-	-	white	-	-	-	-	retinal disease	see paper; ...	2	2	Johan den Dunnen
00454681	FamFPatII-1	PubMed: Sangermano 2021	2-generation family, 1 affected, unaffected parents	F	-	-	white	-	-	-	-	retinal disease	see paper; ...	3	1	Johan den Dunnen
00454682	FamGPatII-1	PubMed: Sangermano 2021	2-generation family, 1 affected, unaffected parents	F	-	-	white	-	-	-	-	retinal disease	see paper; ...	2	1	Johan den Dunnen
00454683	FamHPatIII-1	PubMed: Sangermano 2021	3-generation family, 1 affected, unaffected heterozygous carrier father	F	-	Portugal	white	-	-	-	-	retinal disease	see paper; ...	2	1	Johan den Dunnen
00454684	FamIPatII-1	PubMed: Sangermano 2021	2-generation family, 1 affected, unaffected parents	M	-	United Kingdom (Great Britain)	white	-	-	-	-	retinal disease	see paper; ...	2	2	Johan den Dunnen
00454685	FamJPatII-1	PubMed: Sangermano 2021	2-generation family, 1 affected, unaffected parents	M	-	United Kingdom (Great Britain)	white	-	-	-	-	retinal disease	see paper; ...	2	1	Johan den Dunnen
00454686	FamKPatII-1	PubMed: Sangermano 2021	2-generation family, 1 affected, unaffected parents	F	-	United Kingdom (Great Britain)	white	-	-	-	-	retinal disease	see paper; ...	2	1	Johan den Dunnen
00454687	FamLPatII-1	PubMed: Sangermano 2021	2-generation family, 3 affected brothers, unaffected parents	M	yes	-	Arab	-	-	-	-	retinal disease	see paper; ...	1	3	Johan den Dunnen

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Global Variome shared LOVD

INPP5E (inositol polyphosphate-5-phosphatase, 72 kDa)