Disease #00174 (FH (hypercholesterolemia, familial (FH)))

Official abbreviation	FH
Name	hypercholesterolemia, familial (FH)
OMIM ID	-
Inheritance	Autosomal dominant
Individuals reported having this disease	2962
Phenotype entries for this disease	2944
Associated with 7 genes	ABCA1, APOA2, EPHX2, GHR, ITIH4, LDLR, PPP1R17
Associated tissues	-
Disease features	-
Remarks	-
Date created	2013-08-11 14:06:36 +02:00 (CEST)
Date last edited	2020-02-26 12:49:47 +01:00 (CET)

Individuals

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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.

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Example	Matches
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2962 entries on 30 pages. Showing entries 1 - 100.

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Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00034385	-	PubMed: Chahil 2012, Journal: Chahil 2012	brother from 2-generation family, affected brother/sister, clinically asymptomatic parents	M	?	Malaysia	Malay	>11y	-	-	-	FH	see paper; 18 DCLN points, LDLC 13.25 mmol/L, arcus cornealis (HP:0001084), no xanthelasma (-HP:0001114), tendious xanthomas (HP:0010874; tuberous, no planar), tendinous xanthomata (HP:0000991), cardiomegaly (HP:0001640), ...	LDLR	LDLR	1	2	Jagdish Kaur Chahil
00056431	-	PubMed: Chahil 2012, Journal: Chahil 2012	sister of subject21	F	?	Malaysia	Malay	>9y	-	-	-	FH	see paper; 14 DCLN points, LDLC 17.38 mmol/L, no arcus cornealis (-HP:0001084), no xanthelasma (-HP:0001114), xanthomas (HP:0010874; planar, no tuberous), no tendinous xanthomata (-HP:0000991), no cardiomegaly (-HP:0001640), ...	LDLR	LDLR	1	1	Jagdish Kaur Chahil
00058615	-	-	-	M	no	Slovakia (Slovak Republic)	causacian	-	-	yes	-	FH	-	LDLR	LDLR	1	1	Dominika Gabcova
00058616	-	-	-	M	no	Slovakia (Slovak Republic)	causacian	-	-	yes	-	FH	-	LDLR	LDLR	1	1	Dominika Gabcova
00058617	-	-	-	F	no	Slovakia (Slovak Republic)	causacian	-	-	yes	-	FH	TC 11.2 mmol/l LDL-C 8.6 TAG 3.0	LDLR	LDLR	1	1	Dominika Gabcova
00058618	-	-	-	M	no	Slovakia (Slovak Republic)	causacian	-	-	yes	-	FH	TC 7.8 mmol/l LDL-C 6.5	LDLR	LDLR	1	1	Dominika Gabcova
00058619	-	-	-	M	no	Slovakia (Slovak Republic)	causacian	-	-	yes	-	FH	TC 10.3 mmol/l LDL-C 8.8 TAG 1.6	LDLR	LDLR	1	1	Dominika Gabcova
00058620	-	-	-	F	no	Slovakia (Slovak Republic)	causacian	-	-	yes	-	FH	TC 10 mmol/l LDL-C 8 TAG 1.6	LDLR	LDLR	1	1	Dominika Gabcova
00058621	-	-	-	F	no	-	-	-	-	no	-	FH	TC 9 mmol/l LDL-C 5 mmol/l TG 1 mmol/l	LDLR	LDLR	1	1	Dominika Gabcova
00058622	-	-	-	F	no	Slovakia (Slovak Republic)	causacian	-	-	yes	-	FH	-	LDLR	LDLR	1	1	Dominika Gabcova
00058623	-	-	-	M	no	Slovakia (Slovak Republic)	causacian	-	-	yes	-	FH	TC 9.1 mmol/l LDL-C 6.6 TAG 1.1	LDLR	LDLR	1	1	Dominika Gabcova
00058624	-	-	-	F	no	Slovakia (Slovak Republic)	causacian	-	-	yes	-	FH	TC 10.8 mmol/l LDL-C 8.8 mmol/l TAG 2 mmol/l	LDLR	LDLR	1	1	Dominika Gabcova
00058625	-	-	-	F	no	Slovakia (Slovak Republic)	causacian	-	-	yes	-	FH	TC 7.4 mmol/l LDL-C 5.6 mmol/l TAG 0.9 mmol/l	LDLR	LDLR	1	1	Dominika Gabcova
00058823	-	-	-	M	no	Slovakia (Slovak Republic)	causacian	-	-	yes	-	FH	TC 7.9 mmol/l LDL-C 6 mmol/l TAG 1.1 mmol/l	LDLR	LDLR	1	1	Dominika Gabcova
00060318	-	PubMed: Scholtz 1999	-	-	-	South Africa	Indigenous ZA	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060319	-	PubMed: Whittall 2002	-	-	-	United Kingdom (Great Britain)	Indigenous African	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060320	-	PubMed: Bodamer 2002	-	-	-	United States	US	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060321	-	PubMed: Scholtz 1999	-	-	-	South Africa	Mixed	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060322	-	PubMed: Snozek 2009	-	-	-	United States	African American	-	-	-	-	FH	Hmz phenotype, 48yr old female, MI, CVD, stents, TC 483mg/dl, LDL-C 393mg/dlm TG 282mg/dl, poor response to statins. No family history or samples because patient is adopted	LDLR	LDLR	1	1	Sarah Leigh
00060323	-	PubMed: Usifo 2012	-	-	-	United Kingdom (Great Britain)	Unknown	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060324	-	PubMed: De Castro-Oros 2011	Proband from FH family, with CVD. No variants identified from Lipochip v3–v8 (Progenika Biopharma, Derio, Spain). LDL-C = >270 mg/dl	-	-	Spain	Spanish	-	-	-	-	FH	probable familial hypercholesterolemia	LDLR	LDLR	1	1	Sarah Leigh
00060325	-	PubMed: Lind 2002	-	-	-	Sweden	SE	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060326	-	PubMed: Fouchier 2005	-	-	-	Netherlands	NL	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060327	-	PubMed: Fouchier 2005	-	-	-	Netherlands	NL	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060328	-	PubMed: Peeters 1998	-	-	-	South Africa	Pedi tribe	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060329	-	PubMed: Dedoussis 2004	-	-	-	Germany	DE	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060330	-	PubMed: De Castro-Oros 2011	Proband from FH family, with TX and CVD. No variants identified from Lipochip v3–v8 (Progenika Biopharma, Derio, Spain). LDL-C = >330 mg/dl	-	-	Spain	Spanish	-	-	-	-	FH	definite familial hypercholesterolemia	LDLR	LDLR	1	1	Sarah Leigh
00060331	-	PubMed: Francova 2004	-	-	-	Czech Republic	CZ	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060332	-	PubMed: Scholtz 1999	-	-	-	South Africa	non-European	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060333	-	PubMed: Khoo 2000	-	-	-	China	CN	-	-	-	-	FH	62yr old male, TC, LDL-C , HDL-C , TG , TX, acute MI or angina pectoris	LDLR	LDLR	1	1	Sarah Leigh
00060334	-	PubMed: Brusgaard 2006	-	-	-	Denmark	DK	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060335	-	PubMed: Tichy 2012	-	-	-	Czech Republic	Unknown	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060336	-	PubMed: Day 1997	-	-	-	United Kingdom (Great Britain)	GB	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060337	-	PubMed: Mozas 2002	-	-	-	Spain	ES	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060338	-	PubMed: Leren 2004	-	-	-	Norway	Unknown	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060339	-	PubMed: Alonso 2009	-	-	-	Spain	ES	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060340	-	PubMed: De Castro-Oros 2011	Proband from FH family, with TX. No variants identified from Lipochip v3–v8 (Progenika Biopharma, Derio, Spain). LDL-C = 270 mg/dl	-	-	Spain	Spanish	-	-	-	-	FH	definite familial hypercholesterolemia	LDLR	LDLR	1	1	Sarah Leigh
00060341	-	PubMed: De Castro-Oros 2011	Proband from FH family, with CVD. No variants identified from Lipochip v3–v8 (Progenika Biopharma, Derio, Spain). LDL-C = 415 mg/dl	-	-	Spain	Spanish	-	-	-	-	FH	definite familial hypercholesterolemia	LDLR	LDLR	1	1	Sarah Leigh
00060342	-	PubMed: Smith 2007	-	-	-	United Kingdom (Great Britain)	TR	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060343	-	PubMed: Fouchier 2005	-	-	-	Netherlands	NL	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060344	-	PubMed: Sun 1995	-	-	-	United Kingdom (Great Britain)	Welsh	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060345	-	PubMed: Dedoussis 2003	-	-	-	Greece	GR	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060346	-	PubMed: Dedoussis 2003	-	-	-	United States	US	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060347	-	PubMed: Mak 1998	-	-	-	China	CN	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060348	-	PubMed: Koivisto 1994	-	-	-	Finland	Finland	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060349	-	PubMed: Kim 2004	-	-	-	Korea, South (Republic)	KR	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060350	-	PubMed: Leren 2004	-	-	-	Norway	Unknown	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060351	-	PubMed: Fouchier 2005	-	-	-	Netherlands	NL	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060352	-	PubMed: Jensen 1996	-	-	-	Denmark	DK	-	-	-	-	FH	Untreated TC 13.3 mmol/L, LDL-C 10.9 mmol/L, HDL 1.6 mmol/L, TG 1.8 mmol/L. No relative available to screen	LDLR	LDLR	1	1	Sarah Leigh
00060353	-	PubMed: De Castro-Oros 2011	Proband from FH family, with CVD. No variants identified from Lipochip v3–v8 (Progenika Biopharma, Derio, Spain). LDL-C = >500 mg/dl	-	-	Spain	Spanish	-	-	-	-	FH	definite familial hypercholesterolemia	LDLR	LDLR	1	1	Sarah Leigh
00060354	-	PubMed: Hobbs 1992	-	-	-	Colombia	CO	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060355	-	PubMed: Mozas 2004	-	-	-	Spain	ES	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060356	-	PubMed: Bourbon 2009	-	-	-	Portugal	Unknown	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060357	-	PubMed: Medeiros 2010	-	-	-	Portugal	Unknown	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060358	-	PubMed: Taylor 2010	-	-	-	United Kingdom (Great Britain)	Unknown	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060359	-	PubMed: Hooper 2012	-	-	-	Australia	Unknown	-	-	-	-	FH	DLCNC score 6	LDLR	LDLR	1	1	Sarah Leigh
00060360	-	PubMed: Francova 2004	-	-	-	Czech Republic	CZ	-	-	-	-	FH	16 yr old male TC 6 mmol /L, LDL-C 4.3mmol /L , HDL-C 1.1mmol /L, TG 0.6mmol /L	LDLR	LDLR	1	1	Sarah Leigh
00060361	-	PubMed: Francova 2004	-	-	-	Czech Republic	CZ	-	-	-	-	FH	13 yr old male TC 5.8 mmol /L, LDL-C 3.2mmol /L , HDL-C1.23mmol /L, TG 1.6mmol /L	LDLR	LDLR	1	1	Sarah Leigh
00060362	-	PubMed: Francova 2004	-	-	-	Czech Republic	CZ	-	-	-	-	FH	11 yr old female TC 7.4 mmol /L, LDL-C 5.9mmol /L , HDL-C1.3mmol /L, TG 1mmol /L	LDLR	LDLR	1	1	Sarah Leigh
00060363	-	PubMed: Alonso 2009	-	-	-	Spain	ES	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060364	-	PubMed: Usifo 2012	-	-	-	United Kingdom (Great Britain)	Unknown	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060365	-	PubMed: De Castro-Oros 2011	Proband from FH family, with CVD. No variants identified from Lipochip v3–v8 (Progenika Biopharma, Derio, Spain). LDL-C = 220 mg/dl	-	-	Spain	Spanish	-	-	-	-	FH	probable familial hypercholesterolemia	LDLR	LDLR	1	1	Sarah Leigh
00060366	-	PubMed: Laurie 2004	-	-	-	New Zealand	European	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060367	-	PubMed: De Castro-Oros 2011	Proband from FH family, no variants identified from Lipochip v3–v8 (Progenika Biopharma, Derio, Spain). LDL-C = 195 mg/dl	-	-	Spain	Spanish	-	-	-	-	FH	probable familial hypercholesterolemia	LDLR	LDLR	1	1	Sarah Leigh
00060368	-	PubMed: Mozas 2004	-	-	-	Spain	ES	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060369	-	PubMed: Sozen 2005	-	-	-	Turkey	TR	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060370	-	PubMed: Day 1997	-	-	-	United Kingdom (Great Britain)	GB	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060371	-	PubMed: Medeiros 2010	-	-	-	Portugal	Unknown	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060372	-	PubMed: Fouchier 2005	-	-	-	Netherlands	NL	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060373	-	PubMed: Amsellem 2002	-	-	-	France	FR	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060375	-	PubMed: Bertolini 2013	Found in 3 Htz in one family. mRNA analysis performed, peptide change predicted.	-	-	Italy	IT	-	-	-	-	FH	-	LDLR	LDLR	1	3	Sarah Leigh
00060376	-	PubMed: Maruyama 1998	-	-	-	Japan	JP	-	-	-	-	FH	20 yrs old female clinically hmz from consanguinous parents. 26.0 mmol/L9 (TC?), TX, MI at 18 years.	LDLR	LDLR	1	1	Sarah Leigh
00060377	-	PubMed: Usifo 2012	-	-	-	United Kingdom (Great Britain)	Unknown	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060378	-	PubMed: Leren 2004	-	-	-	Norway	Unknown	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060379	-	PubMed: Tichy 2012	found in one proband	-	-	Czech Republic	Unknown	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060380	-	PubMed: Lombardi 2000	-	-	-	Netherlands	NL	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060381	-	PubMed: Peeters 1999	-	-	-	Belgium	BE	-	-	-	-	FH	(1) TC 9·1, TG 1·1, HDL-C 1·4, LDL-C 7·2mmol/l. (2) TC 9·8, TG 1·0, HDL-C 0·5, LDL-C 8·8mmol/l. Neither had XT or CHD	LDLR	LDLR	1	2	Sarah Leigh
00060382	-	PubMed: Chmara 2010	-	-	-	Poland	Unknown	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060383	-	PubMed: Widhalm 2007	-	-	-	Austria	AT	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060384	-	PubMed: Wang 2005	-	-	-	Canada	CA	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060385	-	PubMed: Chmara 2010	-	-	-	Poland	Unknown	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060386	-	PubMed: Medeiros 2010	-	-	-	Portugal	Unknown	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060387	-	PubMed: Leren 2004	-	-	-	Norway	Unknown	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060388	-	PubMed: Punzalan 2005	-	-	-	Philippines	PH	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060389	-	PubMed: Fouchier 2005	-	-	-	Netherlands	NL	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060390	-	PubMed: Al-Khateeb 2011	-	-	-	Malaysia	Unknown	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060391	-	PubMed: Amsellem 2002	-	-	-	France	FR	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060392	-	PubMed: Sozen 2005	-	-	-	Turkey	TR	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060393	-	PubMed: Al-Khateeb 2011	-	-	-	Malaysia	Unknown	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060394	-	PubMed: Mollaki 2014	Found in one family	-	-	Greece	GR	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060395	-	PubMed: Mollaki 2014	-	-	-	Greece	GR	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060396	-	PubMed: Amsellem 2002	-	-	-	France	FR	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060397	-	PubMed: Lombardi 2000	-	-	-	Netherlands	NL	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060398	-	PubMed: Day 1997	-	-	-	United Kingdom (Great Britain)	GB	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060399	-	PubMed: Mozas 2004	-	-	-	Spain	ES	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060400	-	PubMed: Hobbs 1992	-	-	-	France	FR	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060401	-	PubMed: Ebhardt 1999	-	-	-	Germany	DE	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060402	-	PubMed: Mozas 2004	-	-	-	Spain	ES	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060403	-	PubMed: Deiana 2000	-	-	-	Italy	IT	-	-	-	-	FH	-	LDLR	LDLR	1	1	Sarah Leigh
00060404	-	PubMed: Peeters 1999	-	-	-	South Africa	Sotho	-	-	-	-	FH	TC 13·3, TG 4·2, HDL-C 1·8, LDL-C 9·6mmol/l, no TX or CHD	LDLR	LDLR	1	1	Sarah Leigh

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Global Variome shared LOVD

RBBP8 (retinoblastoma binding protein 8)