All individuals with variants in gene TERT

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.

89 entries on 1 page. Showing entries 1 - 89.

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
00000208	-	PubMed: Sun 2011, Journal: Sun 2011	-	M	no	Netherlands	-	-	-	-	-	CHTE	central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)	1	1	Yu Sun
00000209	-	PubMed: Sun 2011, Journal: Sun 2011	-	M	no	Netherlands	-	-	-	-	-	CHTE	central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)	1	1	Yu Sun
00080987	-	PubMed: Trujillano 2017	unaffected parents	-	-	-	-	-	-	-	-	DKCB3	Dyskeratosis congenita, autosomal recessive 4 (OMIM:613989)	1	1	Daniel Trujillano
00105132	17460043-?	PubMed: Tsakiri 2007	-	-	-	-	-	-	-	-	-	PFBMFT1	idiopathic pulmonary fibrosis and fibrosis	1	1	Johan den Dunnen
00105133	17392301-?	PubMed: Armanios 2007	-	-	-	-	-	-	-	-	-	PFBMFT1	idiopathic pulmonary fibrosis	1	1	Johan den Dunnen
00105134	21931702-?	PubMed: Vulliamy 2011	-	-	-	-	-	-	-	-	-	anemia	aplastic anemia	1	1	Johan den Dunnen
00105135	19147845-?	PubMed: Calado 2009	-	-	-	-	-	-	-	-	-	AML	acute myeloid leukemia	1	1	Johan den Dunnen
00105136	21931702-?	PubMed: Vulliamy 2011	-	-	-	-	-	-	-	-	-	anemia	aplastic anemia, myelodysplastic syndrome	1	1	Johan den Dunnen
00105137	17392301-?	PubMed: Armanios 2007	-	-	-	-	-	-	-	-	-	PFBMFT1	idiopathic pulmonary fibrosis	1	1	Johan den Dunnen
00105138	17392301-?	PubMed: Armanios 2007	-	-	-	-	-	-	-	-	-	PFBMFT1	idiopathic pulmonary fibrosis	1	1	Johan den Dunnen
00105139	17460043-?	PubMed: Tsakiri 2007	-	-	-	-	-	-	-	-	-	PFBMFT1	idiopathic pulmonary fibrosis	1	1	Johan den Dunnen
00105140	21436073-?	PubMed: Parry 2011	-	-	-	-	-	-	-	-	-	PFBMFT1	aplastic anemia and pulmonary fibrosis	1	1	Johan den Dunnen
00105141	15885610-?	PubMed: Vulliamy 2005	-	-	-	-	-	-	-	-	-	anemia	aplastic anemia	1	1	Johan den Dunnen
00105142	15814878-?	PubMed: Yamaguchi 2005	-	-	-	-	-	-	-	-	-	anemia	aplastic anemia	1	1	Johan den Dunnen
00105143	19674077-?	PubMed: Calado 2009.1	-	-	-	-	-	-	-	-	-	anemia	aplastic anemia	1	1	Johan den Dunnen
00105144	18931339-?	PubMed: Du 2009	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00105145	18753630-?	PubMed: Alder 2008	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00105146	16332973-?	PubMed: Vulliamy 2006	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00105147	19147845-?	PubMed: Calado 2009	-	-	-	-	-	-	-	-	-	AML	acute myeloid leukemia	1	1	Johan den Dunnen
00105148	19936245-?	PubMed: Calado 2009.2	-	-	-	-	-	-	-	-	-	PFBMFT1	pancytopenia, aplastic anemia, pulmonary fibrosis	1	1	Johan den Dunnen
00105149	21931702-?	PubMed: Vulliamy 2011	-	-	-	-	-	-	-	-	-	DKCA2;DCKB4	dyskeratosis congenita	1	1	Johan den Dunnen
00105150	18753630-?	PubMed: Alder 2008	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00105151	15814878-?	PubMed: Yamaguchi 2005	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00105152	15814878-?	PubMed: Yamaguchi 2005	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00105153	17460043-?	PubMed: Tsakiri 2007	-	-	-	-	-	-	-	-	-	PFBMFT1	idiopathic pulmonary fibrosis	1	1	Johan den Dunnen
00105154	19147845-?	PubMed: Calado 2009	-	-	-	-	-	-	-	-	-	AML	acute myeloid leukemia	1	1	Johan den Dunnen
00105155	24763404-?	PubMed: Collopy 2014	-	-	-	-	-	-	-	-	-	anemia	aplastic anemia	1	1	Johan den Dunnen
00105156	16990594-?	PubMed: Xin 2007	-	-	-	-	-	-	-	-	-	?	Heterozygote presents as aplastic anemia	1	1	Johan den Dunnen
00105157	23538340-?	PubMed: Gramatges 2013	-	-	-	-	-	-	-	-	-	?	Homozygote presents as Hoyeraal Hreidarsson syndrome	1	1	Johan den Dunnen
00105158	20502709-?	PubMed: Diaz de Leon 2010	-	-	-	-	-	-	-	-	-	PFBMFT1	pulmonary fibrosis	1	1	Johan den Dunnen
00105159	20502709-?	PubMed: Diaz de Leon 2010	-	-	-	-	-	-	-	-	-	PFBMFT1	pulmonary fibrosis	1	1	Johan den Dunnen
00105160	22942352-?	PubMed: Chambers 2012	-	-	-	-	-	-	-	-	-	PFBMFT1	pulmonary fibrosis	1	1	Johan den Dunnen
00105161	16627250-?	PubMed: Liang 2006	-	-	-	-	-	-	-	-	-	anemia	aplastic anemia	1	1	Johan den Dunnen
00105162	15814878-?	PubMed: Yamaguchi 2005	-	-	-	-	-	-	-	-	-	anemia	aplastic anemia	1	1	Johan den Dunnen
00105163	18635888-?	PubMed: Cronkhite 2008	-	-	-	-	-	-	-	-	-	PFBMFT1	pulmonary fibrosis	1	1	Johan den Dunnen
00105164	24763404-?	PubMed: Collopy 2014	-	-	-	-	-	-	-	-	-	anemia	aplastic anemia	1	1	Johan den Dunnen
00105165	18931339-?	PubMed: Du 2009	-	-	-	-	-	-	-	-	-	DKCA2;DCKB4	autosomal dominant dyskeratosis congenita and aplastic anemia	1	1	Johan den Dunnen
00105166	18042801-?	PubMed: Du 2008	-	-	-	-	-	-	-	-	-	DKCA2;DCKB4	autosomal dominant dyskeratosis congenita and aplastic anemia	1	1	Johan den Dunnen
00105167	18931339-?	PubMed: Du 2009	-	-	-	-	-	-	-	-	-	?	severe pancytopenia and aplastic anemia	1	1	Johan den Dunnen
00105168	21931702-?	PubMed: Vulliamy 2011	-	-	-	-	-	-	-	-	-	DKCA2;DCKB4	dyskeratosis congenita	1	1	Johan den Dunnen
00105169	21436073-?	PubMed: Parry 2011	-	-	-	-	-	-	-	-	-	anemia	aplastic anemia	1	1	Johan den Dunnen
00105170	16332973-?	PubMed: Vulliamy 2006	-	-	-	-	-	-	-	-	-	DKCA2;DCKB4	autosomal recessive dyskeratosis congenita	1	1	Johan den Dunnen
00105171	16627250-?	PubMed: Liang 2006	-	-	-	-	-	-	-	-	-	anemia	aplastic anemia	1	1	Johan den Dunnen
00105172	17460043-?	PubMed: Tsakiri 2007	-	-	-	-	-	-	-	-	-	PFBMFT1	idiopathic pulmonary fibrosis	1	1	Johan den Dunnen
00105173	15814878-?	PubMed: Yamaguchi 2005	-	-	-	-	-	-	-	-	-	anemia	aplastic anemia	1	1	Johan den Dunnen
00105174	17785587-?	PubMed: Marrone 2007.2	-	-	-	-	-	-	-	-	-	DKCA2;DCKB4	autosomal recessive dyskeratosis congenita	1	1	Johan den Dunnen
00105175	21436073-?	PubMed: Parry 2011	-	-	-	-	-	-	-	-	-	PFBMFT1	pulmonary fibrosis	1	1	Johan den Dunnen
00105176	18042801-?	PubMed: Du 2008	-	-	-	-	-	-	-	-	-	anemia	aplastic anemia	1	1	Johan den Dunnen
00105177	21931702-?	PubMed: Vulliamy 2011	-	-	-	-	-	-	-	-	-	?	myelodysplastic syndrome	1	1	Johan den Dunnen
00105178	17392301-?	PubMed: Armanios 2007	-	-	-	-	-	-	-	-	-	PFBMFT1	idiopathic pulmonary fibrosis	1	1	Johan den Dunnen
00105179	17460043-?	PubMed: Tsakiri 2007	-	-	-	-	-	-	-	-	-	PFBMFT1	idiopathic pulmonary fibrosis	1	1	Johan den Dunnen
00105180	17460043-?	PubMed: Tsakiri 2007	-	-	-	-	-	-	-	-	-	PFBMFT1	idiopathic pulmonary fibrosis, fibrosis, and aplastic anemia	1	1	Johan den Dunnen
00105181	20502709-?	PubMed: Diaz de Leon 2010	-	-	-	-	-	-	-	-	-	PFBMFT1	pulmonary fibrosis	1	1	Johan den Dunnen
00105182	18042801-?	PubMed: Du 2008	-	-	-	-	-	-	-	-	-	anemia	aplastic anemia	1	1	Johan den Dunnen
00105183	19674077-?	PubMed: Calado 2009.1	-	-	-	-	-	-	-	-	-	anemia	aplastic anemia	1	1	Johan den Dunnen
00105184	17785587-?	PubMed: Marrone 2007.2	-	-	-	-	-	-	-	-	-	DKCA2;DCKB4	autosomal recessive dyskeratosis congenita and Hoyeraal Hreidarsson syndrome	1	1	Johan den Dunnen
00105185	16247010-?	PubMed: Armanios 2005	-	-	-	-	-	-	-	-	-	DKCA2;DCKB4	autosomal dominant dyskeratosis congenita and aplastic anemia	1	1	Johan den Dunnen
00105186	21436073-?	PubMed: Parry 2011	-	-	-	-	-	-	-	-	-	anemia	aplastic anemia	1	1	Johan den Dunnen
00105187	22512499-?	PubMed: Gansner 2012	-	-	-	-	-	-	-	-	-	PFBMFT1	pulmonary fibrosis	1	1	Johan den Dunnen
00105188	20502709-?	PubMed: Diaz de Leon 2010	-	-	-	-	-	-	-	-	-	PFBMFT1	pulmonary fibrosis	1	1	Johan den Dunnen
00105189	20502709-?	PubMed: Diaz de Leon 2010	-	-	-	-	-	-	-	-	-	PFBMFT1	pulmonary fibrosis	1	1	Johan den Dunnen
00105190	18635888-?	PubMed: Cronkhite 2008	-	-	-	-	-	-	-	-	-	PFBMFT1	pulmonary fibrosis	1	1	Johan den Dunnen
00105191	21931702-?	PubMed: Vulliamy 2011	-	-	-	-	-	-	-	-	-	DKCA2;DCKB4	dyskeratosis congenita	1	1	Johan den Dunnen
00105192	15885610-?	PubMed: Vulliamy 2005	-	-	-	-	-	-	-	-	-	DKCA2;DCKB4	aplastic anemia and dyskeratosis congenita	1	1	Johan den Dunnen
00105193	16990594-?	PubMed: Xin 2007	-	-	-	-	-	-	-	-	-	DKCA2;DCKB4	aplastic anemia and dyskeratosis congenita	1	1	Johan den Dunnen
00105194	18931339-?	PubMed: Du 2009	-	-	-	-	-	-	-	-	-	anemia	aplastic anemia	1	1	Johan den Dunnen
00105195	18635888-?	PubMed: Cronkhite 2008	-	-	-	-	-	-	-	-	-	PFBMFT1	pulmonary fibrosis	1	1	Johan den Dunnen
00105196	21436073-?	PubMed: Parry 2011	-	-	-	-	-	-	-	-	-	anemia	aplastic anemia	1	1	Johan den Dunnen
00105197	21931702-?	PubMed: Vulliamy 2011	-	-	-	-	-	-	-	-	-	DKCA2;DCKB4	dyskeratosis congenita	1	1	Johan den Dunnen
00105198	18635888-?	PubMed: Cronkhite 2008	-	-	-	-	-	-	-	-	-	PFBMFT1	pulmonary fibrosis	1	1	Johan den Dunnen
00105199	18931339-?	PubMed: Du 2009	-	-	-	-	-	-	-	-	-	AML	acute myeloid leukemia	1	1	Johan den Dunnen
00105200	18753630-?	PubMed: Alder 2008	-	-	-	-	-	-	-	-	-	AML	acute myeloid leukemia	1	1	Johan den Dunnen
00105201	19147845-?	PubMed: Calado 2009	-	-	-	-	-	-	-	-	-	AML	acute myeloid leukemia	1	1	Johan den Dunnen
00105202	20502709-?	PubMed: Diaz de Leon 2010	-	-	-	-	-	-	-	-	-	PFBMFT1	pulmonary fibrosis	1	1	Johan den Dunnen
00105203	20966039-?	PubMed: El-Chemaly 2011	-	-	-	-	-	-	-	-	-	PFBMFT1	pulmonary fibrosis	1	1	Johan den Dunnen
00105204	15814878-?	PubMed: Yamaguchi 2005	-	-	-	-	-	-	-	-	-	anemia	aplastic anemia	1	1	Johan den Dunnen
00105205	17392301-?	PubMed: Armanios 2007	-	-	-	-	-	-	-	-	-	PFBMFT1	idiopathic pulmonary fibrosis	1	1	Johan den Dunnen
00105206	17460043-Fam8PatII3	PubMed: Tsakiri 2007	2-generation family, affected father and 3 sons	M	no	United States	Hispanic	-	-	-	-	PFBMFT1	idiopathic pulmonary fibrosis, fibrosis, and aplastic anemia	1	4	Johan den Dunnen
00105207	15885610-?	PubMed: Vulliamy 2005	-	-	-	-	-	-	-	-	-	DKCA2;DCKB4	resembles Hoyeraal Hreidarsson syndrome and autosomal recessive dyskeratosis congenita	1	1	Johan den Dunnen
00105208	16332973-?	PubMed: Vulliamy 2006	-	-	-	-	-	-	-	-	-	DKCA2;DCKB4	resembles Hoyeraal Hreidarsson syndrome and autosomal recessive dyskeratosis congenita	1	1	Johan den Dunnen
00105209	21931702-?	PubMed: Vulliamy 2011	-	-	-	-	-	-	-	-	-	anemia	aplastic anemia	1	1	Johan den Dunnen
00249425	-	-	-	F	-	-	-	-	-	-	-	-	-	1	1	Andreas Laner
00293721	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	10	Mohammed Faruq
00293722	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	3	Mohammed Faruq
00293723	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	67	Mohammed Faruq
00295624	-	PubMed: Juge 2017	-	M	?	France	-	>48y	-	-	-	IPF	-	1	1	Joanne van der Vis
00305007	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	2	Mohammed Faruq
00308704	-	PubMed: Le 2019	analysis 305 unrelated individuals	-	-	Viet Nam	-	-	-	-	-	Healthy/Control	-	1	1	Global Variome, with Curator vacancy
00467805	patient	PubMed: Wheeler 2025	2-generation family, 1 affected	M	-	United States	-	-	-	-	-	?	see paper; ..., 1d-macrocephaly, mild hypoglycemia, cyanosis; 1y-global delays, gross motor delay (9m-sit, 11m-crawl), speech delay, frontal bossing, short stature, hypertelorism; 3y-walk; mild pseudohypertrophy forearms/calves ; earning difficulties both parents	1	1	Johan den Dunnen

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Global Variome shared LOVD

TERT (telomerase reverse transcriptase)