All individuals with variants in gene TFR2

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.

87 entries on 1 page. Showing entries 1 - 87.

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
00019844	22890139-Fam1	PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012	-	F	-	Spain	-	-	-	-	-	HFE	-	1	1	Mayka Sanchez
00019846	23018356-Pat1	PubMed: Zamani 2012	-	F	-	Iran	-	-	-	-	-	HFE	-	1	1	Mayka Sanchez
00019847	12809944-Fam	PubMed: Hattori 2003	2-generation family, 3 affected sibs (F, 2M)	F;M	-	Japan	-	-	-	-	-	HFE	severe iron deposits in the hepatocytes and bile ducts, generally pigmented, none affected by diabetes mellitus, elevated serum CA19-9	1	3	Mayka Sanchez
00019851	21770687-Pat	PubMed: Del-Castillo-Rueda 2011	-	M	-	Portugal	-	-	-	-	-	HFE1	Iron overload due to genetics and environmental factors (alcoholic habits)	1	1	Mayka Sanchez
00019853	18450729-Pat	PubMed: Gerolami 2008, Journal: Gerolami 2008	-	F	-	Italy	-	-	-	-	-	HFE3	iron overload and astheny	2	2	Mayka Sanchez
00019854	26029709_Fam1	PubMed: Joshi 2015, Journal: Joshi 2015	3-generation family, 2 affecteds (2F), unaffected heterozygous carrier parents/relatives	F	-	Spain	-	-	-	-	-	HFE3	see paper; ...	1	4	Mayka Sanchez
00019855	26029709_Fam2	PubMed: Joshi 2015, Journal: Joshi 2015	2-generation family, 1 affected, unaffected heterozygous carrier parents/sibs	F	no	Spain	-	-	-	-	-	HFE3	see paper; ...	2	4	Mayka Sanchez
00019856	26029709_Fam3	PubMed: Joshi 2015, Journal: Joshi 2015	2-generation family, 1 affected, unaffected heterozygous carrier parents/sibs	M	no	Spain	-	-	-	-	-	HFE3	see paper; ...	2	1	Mayka Sanchez
00024118	-	PubMed: Lee and Barton 2006	-	M	-	United Kingdom (Great Britain)	White of Scottish descent	-	-	-	34 units of 500ml at weekly phlebotomy (reported as 6.8g Fe removed)	HFE3	hemochromatosis, severe iron overload; see paper	3	1	Ann Walker
00024226	-	-	-	F	no	Italy	white	>27y	-	-	Weekly phlebotomy	HFE3	-	2	1	Giulia Ravasi
00024227	-	-	-	F	no	Chile	Chilean	-	-	-	-	HFE3	-	2	1	Giulia Ravasi
00024229	-	-	-	F	no	Italy	Italian	-	-	-	-	HFE3	-	1	1	Giulia Ravasi
00024958	-	PubMed: Camaschella 2000, Journal: Camaschella 2000, PubMed: Roetto 2001	7-generation family, 6 affecteds, (2F, 4M), unaffected heterozygous carriers	-	yes	Italy	Italina, Sicily	-	-	-	-	HFE3	see paper; all patients had increased transferrin saturation and serum ferritin and most had disease-related clinical complications; affected siblings had skin pigmentation and abnormal liver function tests; PatV11 had arthritis and histologically documented cirrhosis	1	6	Johan den Dunnen
00024959	-	PubMed: Camaschella 2000, Journal: Camaschella 2000, PubMed: Roetto 2001	2-generation family, 3 affecteds (2F), unaffected heterozygous carrier parents; PatII3 homozygous for HFE:H63D	M	?	Italy	Italina, Sicily	-	-	-	-	HFE3	see paper; increased transferrin saturation and serum ferritin and most had disease-related clinical complications; affected siblings had skin pigmentation and abnormal liver function tests; PatII3 had liver cirrhosis, diabetes and arthritis	1	3	Johan den Dunnen
00024960	-	PubMed: Roetto 2001, Journal: Roetto 2001	6-generation family, 6 affecteds, (2F, 4M), 6 unaffected heterozygous carriers	-	yes	Italy	Italian, south, Campania	-	-	-	-	HFE3	see paper	1	6	Johan den Dunnen
00024961	-	PubMed: Roetto 2001, Journal: Roetto 2001	3-generation family, 1 affected, unaffected heterozygous carriers	-	?	Italy	Italian, central, Lazio	-	-	-	-	HFE3	see paper	1	1	Johan den Dunnen
00024962	-	PubMed: Hofmann 2002	2-generation family, mother HFE:C282Y homozygous sibs with discordant phenotype	F	?	United States	-	-	-	-	-	?	see paper	1	1	Ann Walker
00024964	-	PubMed: Hofmann 2002	2-generation family, Sib2 HFE:C282Y homozygous sibs with discordant phenotype	M	?	United States	-	-	-	-	-	HFE1	see paper	1	1	Ann Walker
00024965	-	PubMed: Hofmann 2002	2-generation family, Sib3+4 HFE:C282Y homozygous sibs with discordant phenotype	-	?	United States	-	-	-	-	-	?	see paper	1	2	Ann Walker
00024966	-	PubMed: Hofmann 2002	2-generation family, Sib5 HFE:C282Y homozygous sibs with discordant phenotype	-	?	United States	-	-	-	-	-	?	see paper	1	1	Ann Walker
00024967	-	PubMed: Mattman 2002, Journal: Mattman 2002	4-generation family, 3 affecteds (2F, M), index has 2 affected sisters (1HFE:H63D heterozygote)	-	yes	Portugal	Portuguese	-	-	-	-	HFE1	hemochromatosis, juvenile; fatigue, hypogonadotropic hypogonadism, hyperpigmentation, mild elevation liver transaminases, idiopathic thrombocytopenic purpura, mild normocytic anemia and lymphopenia; elevated hepatic iron (0012465) phlebotomy >12g Fe over 4y	1	3	Dan Yin
00024968	-	PubMed: Mattman 2002	89 iron overload patients, non-HFE:C282Y	-	?	Canada	-	-	-	-	-	HFE1	see paper	4	89	Johan den Dunnen
00024969	-	PubMed: Girelli 2002	2-generation family, 3 affecteds (F, 2M), unaffected heterozygous carriers	M	?	Italy	Italian, north	-	-	-	-	HFE3	see paper; ..., hemochromatosis, juvenile; elevated hepatic iron (HP:0012465) HII 11.2 µmol Fe/g dry wt liver/year; phlebotomy 8.75g Fe	1	3	Dan Yin
00024970	-	PubMed: Hsiao 2007	-	F	?	Taiwan	Taiwanese	-	-	-	-	HFE3	chronic hepatitis C infection (AST 41, ALT 58 IU/L; normal ranges < 40 IU/L); never treated with interferon; liver biopsy showed iron mainly in hepatocytes; LFTs normalized after 3y venesection; repeat liver biopsy after 3y venesection contained little iron; elevated hepatic iron (HP:0012465) venesection ~4.5g Fe over 3y; HII 8.48 µmol Fe/g dry wt liver/y	1	1	Ann Walker
00024971	HC_00002	PubMed: Pelucchi 2009, Journal: Pelucchi 2009	-	F	?	Italy	Italian, south, Campania	-	-	-	-	HFE1	liver biopsy showed cirrhosis and moderate steatosis; metabolic syndrome; mild left ventricular hypertrophy; hepatitis B and C viral infections, haematologic and inflammatory diseases excluded; no family history hemochromatosis; elevated hepatic iron (0012465) HII 6.4umol Fe/g dry wt liver/y	1	1	Dan Yin
00024973	-	PubMed: Biasiotto 2008	-	F	?	Italy	-	-	-	-	-	HFE1	see paper	2	1	Johan den Dunnen
00024974	-	PubMed: Biasiotto 2008	affected brother/sister	M	?	Italy	-	-	-	-	-	HFE1	see paper	1	1	Johan den Dunnen
00024975	-	PubMed: Biasiotto 2008	50 controls	-	?	Italy	-	-	-	-	-	?	see paper	2	50	Johan den Dunnen
00024976	-	PubMed: Koyama 2005	-	-	yes	Japan	-	-	-	-	-	HFE1	see paper	1	1	Johan den Dunnen
00024977	-	PubMed: Koyama 2005	-	-	no	Japan	-	-	-	-	-	HFE1	see paper	2	1	Johan den Dunnen
00024978	-	PubMed: Koyama 2005	-	-	no	Japan	-	-	-	-	-	HFE1	see paper	1	1	Johan den Dunnen
00024979	-	PubMed: Gerolami 2008	-	F	?	Italy	-	-	-	-	-	HFE1	see paper	2	1	Johan den Dunnen
00024980	-	PubMed: Pietrangelo 2005	4-generation family, 3 affecteds (F, 2M); 1 M no HFE vars	-	yes	Italy	-	-	-	-	-	HFE1	see paper, variable; severe endocrinopathy and cardiomyopathy	1	3	Johan den Dunnen
00024981	-	PubMed: Le Gac 2004	2-generation famil, affected brother/sister	-	yes	France	French, north	-	-	-	-	HFE1	see paper	1	1	Johan den Dunnen
00024982	-	PubMed: Biasiotto 2003	-	-	?	Italy	-	-	-	-	-	HFE1	altered iron status	1	1	Johan den Dunnen
00024983	-	PubMed: Biasiotto 2003	-	-	?	Italy	-	-	-	-	-	HFE1	altered iron status	1	1	Johan den Dunnen
00024984	-	PubMed: Biasiotto 2003	-	-	?	Italy	-	-	-	-	-	HFE1	altered iron status	1	1	Johan den Dunnen
00024985	-	PubMed: Biasiotto 2003	-	-	?	Italy	-	-	-	-	-	HFE1	altered iron status	1	1	Johan den Dunnen
00024986	-	PubMed: Biasiotto 2003	-	-	?	Italy	-	-	-	-	-	HFE1	altered iron status	1	1	Johan den Dunnen
00024987	-	PubMed: Biasiotto 2003	family, 8 affecteds	-	?	Italy	-	-	-	-	-	HFE1	altered iron status	1	8	Johan den Dunnen
00024988	-	PubMed: Biasiotto 2003	-	-	?	Italy	-	-	-	-	-	HFE1	altered iron status	1	1	Johan den Dunnen
00024989	-	PubMed: Biasiotto 2003	-	-	?	Italy	-	-	-	-	-	HFE1	altered iron status	1	1	Johan den Dunnen
00024990	-	PubMed: Del Castillo-Rueda 2011	family	-	?	Spain	-	-	-	-	-	HFE1	see paper; hyperferritinemia, metabolic syndrome	1	1	Johan den Dunnen
00024991	-	PubMed: Mendes 2009	-	-	?	Portugal	-	-	-	-	-	HFE1	see paper; non-classical	1	1	Johan den Dunnen
00024992	-	PubMed: Mendes 2009	-	-	?	Portugal	-	-	-	-	-	HFE1	see paper; non-classical	1	1	Johan den Dunnen
00024993	-	PubMed: Mendes 2009	-	-	?	Portugal	-	-	-	-	-	HFE1	see paper; non-classical	1	1	Johan den Dunnen
00104898	22890139-Fam2Pat1	PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012	2-generation family, affected father and son	M	no	Spain	-	-	-	-	-	HFE	see paper; ...	2	5	Johan den Dunnen
00104899	22890139-Fam2Pat1f	PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012	father of Pat1	M	-	Spain	-	-	-	-	-	HFE	hemochromatosis, treated with phlebotomy	1	1	Johan den Dunnen
00104900	22890139-Fam2Pat1m	PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012	mother of Pat1	F	-	Spain	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00104902	22890139-Fam2Pat1s1	PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012	-	F	-	Spain	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00104903	22890139-Fam3Pat1	PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012	2-generation family, 1 affected	M	-	Spain	-	-	-	-	-	HFE	mild hyperferritinemia, metabolic syndrome, body mass index 31, hypercholesterolemia, type 2 diabetes mellitus, hepatic steatosis; iron overload phenotype, MRI mild liver iron overload (50 μmol Fe/g); phlebotomy initiated at 450 ml of blood per month for 3 months, then every 3 months thereafter with an annual check-up (1.35 g of Fe removed) ;no laboratory values to assess response;measures to control weight, cholesterol, and glucose were prescribed	1	1	Johan den Dunnen
00104904	22890139-Fam4Pat1	PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012	-	M	-	Spain	-	-	-	-	-	HFE	classic hemochromatosis; MRI revealed iron overload phenotype, severe liver iron overload (230 μmol Fe/g); received phlebotomy for 2y (6.07g of Fe removed), no follow-up MR	1	1	Johan den Dunnen
00104907	16923517-Pats	PubMed: Majore 2006	2-generation family, affected sister/brother, unaffected heterozygous carrier parents	F;M	-	Italy	Italy, central (Abruzzo)	-	-	-	-	HFE	see paper; ...	1	2	Johan den Dunnen
00104908	15020277-Fam1	PubMed: Piperno 2004	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	Italy	Sicily	-	-	-	-	HFE	see paper; ...	1	1	Johan den Dunnen
00104909	15020277-Fam2	PubMed: Piperno 2004	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	Italy	Sicily	-	-	-	-	HFE	see paper	1	1	Johan den Dunnen
00104910	22981443-Pat	PubMed: Majore 2013	-	M	-	Burundi	-	-	-	-	-	HFE	see paper; ...	2	1	Johan den Dunnen
00104911	24055163-Pat	PubMed: Radio 2014, Journal: Radio 2014	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	no	Italy	-	-	-	-	-	HFE	severe hereditary hemochromatosis	1	1	Johan den Dunnen
00104912	24055163-Pat	PubMed: Radio 2014, Journal: Radio 2014	-	-	-	Italy	-	-	-	-	-	HFE	-	1	1	Johan den Dunnen
00104913	24055163-Pat	PubMed: Radio 2014, Journal: Radio 2014	-	-	-	Italy	-	-	-	-	-	HFE	-	1	1	Johan den Dunnen
00104914	24055163-Pat	PubMed: Radio 2014, Journal: Radio 2014	-	-	-	Italy	-	-	-	-	-	HFE	-	1	1	Johan den Dunnen
00104915	24055163-Pat	PubMed: Radio 2014, Journal: Radio 2014	-	-	-	Italy	-	-	-	-	-	HFE	-	1	1	Johan den Dunnen
00104916	24055163-Pat	PubMed: Radio 2014, Journal: Radio 2014	-	-	-	Italy	-	-	-	-	-	HFE	-	1	1	Johan den Dunnen
00104917	24055163-Pat	PubMed: Radio 2014, Journal: Radio 2014	-	-	-	Italy	-	-	-	-	-	HFE	-	1	1	Johan den Dunnen
00104918	24055163-Pat	PubMed: Radio 2014, Journal: Radio 2014	-	-	-	Italy	-	-	-	-	-	HFE	-	1	1	Johan den Dunnen
00104919	24055163-Pat	PubMed: Radio 2014, Journal: Radio 2014	-	-	-	Italy	-	-	-	-	-	HFE	-	1	1	Johan den Dunnen
00104920	24055163-Pat	PubMed: Radio 2014, Journal: Radio 2014	-	-	-	Italy	-	-	-	-	-	HFE	-	1	1	Johan den Dunnen
00104921	24055163	PubMed: Radio 2014, Journal: Radio 2014	-	-	-	Italy	-	-	-	-	-	HFE	-	1	1	Johan den Dunnen
00104922	24055163-Pat	PubMed: Radio 2014, Journal: Radio 2014	-	-	-	Italy	-	-	-	-	-	HFE	-	1	1	Johan den Dunnen
00104923	24055163-Pat	PubMed: Radio 2014, Journal: Radio 2014	-	-	-	Italy	-	-	-	-	-	HFE	-	1	1	Johan den Dunnen
00104924	24055163-Pat	PubMed: Radio 2014, Journal: Radio 2014	-	-	-	Italy	-	-	-	-	-	HFE	-	1	1	Johan den Dunnen
00104925	24055163-Pat	PubMed: Radio 2014, Journal: Radio 2014	-	-	-	Italy	-	-	-	-	-	HFE	-	1	1	Johan den Dunnen
00104926	24055163-Pat	PubMed: Radio 2014, Journal: Radio 2014	-	-	-	Italy	-	-	-	-	-	HFE	-	1	1	Johan den Dunnen
00104927	24055163-Pat	PubMed: Radio 2014, Journal: Radio 2014	-	-	-	Italy	-	-	-	-	-	HFE	-	1	1	Johan den Dunnen
00104928	24055163-Pat	PubMed: Radio 2014, Journal: Radio 2014	-	-	-	Italy	-	-	-	-	-	HFE	-	1	1	Johan den Dunnen
00104929	24055163-Pat	PubMed: Radio 2014, Journal: Radio 2014	-	-	-	Italy	-	-	-	-	-	HFE	-	1	1	Johan den Dunnen
00104930	23600741-Pat1	PubMed: Bardou-Jacquet 2013, Journal: Bardou-Jacquet 2013	-	F	yes	France	-	-	-	-	-	HFE	see paper; ...	1	1	Johan den Dunnen
00104931	23600741-Pat2	PubMed: Bardou-Jacquet 2013, Journal: Bardou-Jacquet 2013	-	M	-	France	-	-	-	-	-	HFE	see paper; ...	1	1	Johan den Dunnen
00104932	23600741-Pat3	PubMed: Bardou-Jacquet 2013, Journal: Bardou-Jacquet 2013	-	-	-	France	Africa, north	-	-	-	-	HFE	see paper; ...	1	1	Johan den Dunnen
00104933	23600741-Pat4	PubMed: Bardou-Jacquet 2013, Journal: Bardou-Jacquet 2013	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	France	-	-	-	-	-	HFE	see paper; ...	2	1	Johan den Dunnen
00104934	23600741-Pat5	PubMed: Bardou-Jacquet 2013, Journal: Bardou-Jacquet 2013	-	M	-	France	-	-	-	-	-	HFE	see paper; ...	2	1	Johan den Dunnen
00104935	23600741-Pat6	PubMed: Bardou-Jacquet 2013, Journal: Bardou-Jacquet 2013	-	F	-	France	-	-	-	-	-	HFE	see paper; arthropathy, non-HFE related haemochromatosis, elevated transferrin saturation, arthropathy; phlebotomies very well tolerated, removed 19.5 g iron	2	1	Johan den Dunnen
00104936	23600741-Pat7	PubMed: Bardou-Jacquet 2013, Journal: Bardou-Jacquet 2013	-	F	-	France	-	-	-	-	-	HFE	see paper; ...	2	1	Johan den Dunnen
00104937	17726683-Pat	PubMed: Barton 2008, Journal: Barton 2008	-	F	-	United States	native American;white	-	-	-	-	HFE	see paper; ...	1	1	Johan den Dunnen
00294216	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	47	Mohammed Faruq
00305121	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00435464	Pat2	PubMed: Sajan 2019	2-generation family, 1 affected, unaffected heterozygous parents	?	-	United States	-	-	-	-	-	RLSDF	see paper; ..., 2y-weight 10.3 kg (8th), height 77.3 cm (5th), OFC 52.5 cm (>98th), BMI 30 kg/m2 (96th); Rhizomelic short stature most evident in upper extremity, prominent fingertip pads and simian crease left, flattening of dorsal aspect skull indicative of plagiocephaly but otherwise grossly normal; macrocephaly, short neck, micrognathia, mild proptosis, depressed nasal bridge, long smooth philtrum; difficulty gaining weight, receives physical and speech therapies, central hypotonia, bilateral mild conductive hearing loss, laryngomalacia, poplyploid anal mass which had decreased in size, brisk deep tendon reflexesMRI brain <1y-mildly delayed myelination, benign enlargement of subarachnoid spaces of infancy without aqueductal stenosis, craniocervical junction anomalies cervical region of the spine; heart murmur, mildly increased velocity in the suprapulmonic region with no pulmonary valve stenosis, a small patent foramen ovale with left to right shunting, and mild tricuspid regurgitation	1	1	Johan den Dunnen
00461042	-	-	-	-	-	Netherlands	-	-	-	-	-	?	-	1	1	Tjakko van Ham

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Global Variome shared LOVD

TFR2 (transferrin receptor 2)