Disease #01671 (AT (ataxia-telangiectasia (AT)), OMIM:208900)

Official abbreviation	AT
Name	ataxia-telangiectasia (AT)
OMIM ID	208900
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	1209
Phenotype entries for this disease	295
Associated with 1 gene	ATM
Associated tissues	-
Disease features	autosomal recessive disorder characterized by cerebellar ataxia, telangiectases, immune defects, predisposition to malignancy, chromosomal breakag; AT cells are abnormally sensitive to killing by ionizing radiation (IR), abnormally resistant to inhibition of DNA synthesis by ionizing radiation
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

Individuals

Legend

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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

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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'

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1209 entries on 13 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
00073133	-	ATX286	-	M	-	France	-	-	-	-	-	AT	-	ATM	ATM	2	1	Claire Guissart
00104957	-	-	2-generation family, 2 affected children (F,M), 1 unaffected child, unaffected heterozygous carrier parents	F	yes	Russian Federation	white	-	-	-	-	AT	HP:0001260 Dysarthria;HP:0005407 Decreased number of CD4+ T cells;HP:0002837 Recurrent bronchitis; HP:0006254 Elevated alpha-fetoprotein;HP:0001251 Ataxia;HP:0000524 Conjunctival telangiectasia;HP:0008348 Immunoglobulin IgG2 deficiency	ATM	ATM	1	1	Jekaterina Shubina
00104958	-	-	2-generation family, 2 affected children (F,M), 1 unaffected child, unaffected heterozygous carrier parents	M	yes	Russian Federation	white	-	-	-	-	AT	HP:0008348 Immunoglobulin IgG2 deficiency; HP:0001251 Ataxia; HP:0006254 Elevated alpha-fetoprotein; HP:0005407 Decreased number of CD4+ T cells	ATM	ATM	1	1	Jekaterina Shubina
00104982	-	-	2-generation family, 1 child (F) with Louis-Bar syndrome, unaffected heterozygous carrier parents. Child with ataxia-telangiectasia.	F	yes	Russian Federation	white	-	-	-	-	AT	HP:0008348 Immunoglobulin IgG2 deficiency;HP:0000524 Conjunctival telangiectasia; HP:0001251 Ataxia; HP:0006254 Elevated alpha-fetoprotein; HP:0002837 Recurrent bronchitis; HP:0005407 Decreased number of CD4+ T cells	ATM	ATM	1	1	Jekaterina Shubina
00109566	F-303	PubMed: Gilad 1996, PubMed: Gilad 1998	-	-	-	Israel	Bedouin	-	-	-	-	AT	-	ATM	ATM	1	1	Patrick Concannon
00109567	-	PubMed: Stankovic 1998	-	-	-	-	-	-	-	-	-	AT	-	ATM	ATM	2	1	Patrick Concannon
00109568	-	PubMed: Byrd 1996; PubMed: Stankovic 1998	-	-	-	-	-	-	-	-	-	AT	-	ATM	ATM	2	1	Patrick Concannon
00109569	-	PubMed: Gilad 1996	Initiation codon changed to Thr	-	-	-	-	-	-	-	-	AT	-	ATM	ATM	1	1	Patrick Concannon
00109570	-	PubMed: Buzin 2003	Initiation codon changed to Thr	-	-	-	-	-	-	-	-	AT	-	ATM	ATM	2	1	Patrick Concannon
00109571	-	PubMed: Teraoka 1999; PubMed: Buzin 2003	-	-	-	-	-	-	-	-	-	AT	-	ATM	ATM	2	1	Patrick Concannon
00109572	-	PubMed: Buzin 2003	Initiation codon changed to Ile	-	-	-	-	-	-	-	-	AT	-	ATM	ATM	2	1	Patrick Concannon
00109573	Aa053	PubMed: Sandoval 1999	-	-	-	-	-	-	-	-	-	AT	-	ATM	ATM	1	1	Patrick Concannon
00109574	-	-	-	M	?	Pakistan	-	-	-	-	-	AT	-	ATM	ATM	1	1	Monica Martinez-Gallo
00109575	Aa005	PubMed: Sandoval 1999	-	-	-	-	-	-	-	-	-	AT	-	ATM	ATM	2	1	Patrick Concannon
00109576	-	PubMed: Mitui 2003	-	-	-	-	Iberian	-	-	-	-	AT	-	ATM	ATM	2	1	Patrick Concannon
00109577	-	PubMed: Teraoka 1999; PubMed: Becker-Catania 2000	-	-	-	-	-	-	-	-	-	AT	-	ATM	ATM	2	1	Patrick Concannon
00109578	F-191	PubMed: Gilad 1998	-	-	-	Israel	Bedouin	-	-	-	-	AT	-	ATM	ATM	1	1	Patrick Concannon
00109579	F-2084	PubMed: Gilad 1998	-	-	-	Israel	Bedouin	-	-	-	-	AT	-	ATM	ATM	1	1	Patrick Concannon
00109580	families	PubMed: Gilad 1996, PubMed: Hacia 1998	15 families	-	-	Morocco;Tunisia	Africa-N;jew	-	-	-	-	AT	-	ATM	ATM	1	15	Patrick Concannon
00109581	-	PubMed: Mitui 2003	-	-	-	-	Iberian	-	-	-	-	AT	-	ATM	ATM	2	1	Patrick Concannon
00109582	-	PubMed: Jeddane 2013	-	-	?	Morocco	-	-	-	-	-	AT	-	ATM	ATM	2	1	Patrick Concannon
00109583	-	PubMed: Magliozzi 2006	-	-	-	-	-	-	-	-	-	AT	-	ATM	ATM	2	1	Patrick Concannon
00109584	-	PubMed: Stankovic 1998	-	-	-	-	-	-	-	-	-	AT	-	ATM	ATM	2	1	Patrick Concannon
00109585	-	PubMed: Castellvi-Bel 1999	-	-	-	-	North-American	-	-	-	-	AT	-	ATM	ATM	1	1	Patrick Concannon
00109586	-	PubMed: Becker-Catania 2000	-	-	-	-	-	-	-	-	-	AT	-	ATM	ATM	1	1	Patrick Concannon
00109587	-	PubMed: Li and Swift 2000	-	-	-	-	-	-	-	-	-	AT	-	ATM	ATM	1	1	Patrick Concannon
00109588	-	PubMed: Li and Swift 2000	-	-	-	-	-	-	-	-	-	AT	-	ATM	ATM	1	1	Patrick Concannon
00109589	-	PubMed: Stankovic 1998	-	-	-	-	-	-	-	-	-	AT	-	ATM	ATM	2	1	Patrick Concannon
00109590	-	PubMed: Li and Swift 2000	-	-	-	-	-	-	-	-	-	AT	-	ATM	ATM	1	1	Patrick Concannon
00109591	-	PubMed: Li and Swift 2000	-	-	-	-	-	-	-	-	-	AT	-	ATM	ATM	1	1	Patrick Concannon
00109592	-	PubMed: Cavalieri 2006	-	-	-	-	-	-	-	-	-	AT	-	ATM	ATM	1	1	Patrick Concannon
00109593	-	-	-	-	-	-	-	-	-	-	-	AT	-	ATM	ATM	2	1	Kotoka Nakamura
00109594	Pat9	PubMed: Verhagen 2012	-	M	-	Netherlands	-	-	-	-	-	AT	-	ATM	ATM	2	1	Frans BL Hogervorst
00109595	Patv5;FamPat18I	PubMed: Verhagen 2009, PubMed: Verhagen 2012	family, 2 affected (F, M)	F	-	Netherlands	-	-	-	-	-	AT	-	ATM	ATM	1	2	Frans BL Hogervorst
00109596	DAAT5	PubMed: Laake 2000	-	-	-	Denmark	-	-	-	-	-	AT	-	ATM	ATM	2	1	Patrick Concannon
00109597	-	PubMed: Birrell 2005	-	-	-	-	-	-	-	-	-	AT	-	ATM	ATM	2	1	Patrick Concannon
00109599	-	PubMed: Li and Swift 2000	-	-	-	-	-	-	-	-	-	AT	-	ATM	ATM	1	1	Patrick Concannon
00109600	-	PubMed: Li and Swift 2000	-	-	-	-	-	-	-	-	-	AT	-	ATM	ATM	1	1	Patrick Concannon
00109601	-	PubMed: Angele 2003	-	-	-	-	-	-	-	-	-	AT	-	ATM	ATM	4	1	Patrick Concannon
00109602	-	PubMed: Teraoka 1999; PubMed: Mitui 2005	-	-	-	-	-	-	-	-	-	AT	-	ATM	ATM	2	1	Patrick Concannon
00109603	-	PubMed: Mitui 2005	-	-	-	-	-	-	-	-	-	AT	-	ATM	ATM	2	1	Patrick Concannon
00109604	-	PubMed: Babaei 2005	-	-	-	Iran	-	-	-	-	-	AT	-	ATM	ATM	2	1	Patrick Concannon
00109605	-	PubMed: Babaei 2005	-	-	-	Iran	-	-	-	-	-	AT	-	ATM	ATM	2	1	Patrick Concannon
00109606	-	PubMed: Mitui 2005	-	-	-	-	-	-	-	-	-	AT	-	ATM	ATM	2	1	Patrick Concannon
00109607	-	PubMed: Castellvi-Bel 1999	-	-	-	Poland	-	-	-	-	-	AT	-	ATM	ATM	1	1	Patrick Concannon
00109608	-	PubMed: Podralska 2014	-	M	?	(Poland)	-	-	-	-	-	AT	-	ATM	ATM	2	1	Patrick Concannon
00109609	-	-	-	-	-	Japan	Japanese	-	-	-	-	AT	-	ATM	ATM	2	1	Kotoka Nakamura
00109610	-	PubMed: Telatar 1998	-	-	-	Poland	-	-	-	-	-	AT	-	ATM	ATM	1	1	Patrick Concannon
00109611	-	PubMed: Teraoka 1999; PubMed: Mitui 2005	-	-	-	-	-	-	-	-	-	AT	-	ATM	ATM	2	1	Patrick Concannon
00109612	-	PubMed: Podralska 2014	-	M	?	Poland	-	-	-	-	-	AT	-	ATM	ATM	2	1	Patrick Concannon
00109613	AT57RM	PubMed: Gilad 1996; PubMed: Magliozzi 2006	-	-	-	Italy	-	-	-	-	-	AT	-	ATM	ATM	2	1	Patrick Concannon
00109614	-	PubMed: Izatt 1999	-	-	-	-	-	-	-	-	-	AT	-	ATM	ATM	1	1	Patrick Concannon
00109615	-	PubMed: Ejima and Sasaki 1998	-	-	-	-	-	-	-	-	-	AT	-	ATM	ATM	1	1	Patrick Concannon
00109617	SVAT8	PubMed: Laake 2000	-	-	-	Sweden	-	-	-	-	-	AT	-	ATM	ATM	2	1	Patrick Concannon
00109618	AT35	PubMed: Dork 2004, PubMed: Fiévet 2019, Journal: Fiévet 2019	-	M	-	Germany	-	-	-	-	-	AT	slow disease progression; 7y-ataxia; 45y-wheelchair; dystonia, dysarthria, abnormal movements, ccular telangiectasia; 60y-no cancer	ATM	ATM	2	1	Patrick Concannon
00109619	Pat10;Pat22;Pat24.D1	PubMed: Verhagen 2012, PubMed: Van Os 2017, PubMed: Van Os 2019	-	F	-	Netherlands	Turkey	-	-	-	-	AT	60m-ataxia; 10m-wheelchair bound; telangiectasia; no malignancy; no respiratory disease; no immunodeficiency	ATM	ATM	1	1	Frans BL Hogervorst
00109620	FamISAT9F-596	PubMed: Savitsky 1995, PubMed: Gilad 1996, PubMed: Gilad 1998	-	-	yes	Palestine	Arab	-	-	-	-	AT	-	ATM	ATM	1	1	Patrick Concannon
00109621	-	PubMed: Byrd 1996	-	-	-	-	-	-	-	-	-	AT	-	ATM	ATM	2	1	Patrick Concannon
00109622	-	PubMed: Babaei 2005	-	-	-	Iran	-	-	-	-	-	AT	-	ATM	ATM	2	1	Patrick Concannon
00109623	Aa050	PubMed: Sandoval 1999	-	-	-	-	-	-	-	-	-	AT	-	ATM	ATM	1	1	Patrick Concannon
00109624	-	PubMed: Li and Swift 2000	-	-	-	-	-	-	-	-	-	AT	-	ATM	-	-	1	Patrick Concannon
00109625	-	PubMed: Jiang 2006	-	-	-	China	-	-	-	-	-	AT	-	ATM	ATM	2	1	Patrick Concannon
00109626	-	PubMed: Coutinho 2004	-	-	-	-	-	-	-	-	-	AT	-	ATM	ATM	2	1	Patrick Concannon
00109627	-	PubMed: Mitui 2003	-	-	-	Spain	-	-	-	-	-	AT	-	ATM	ATM	2	1	Patrick Concannon
00109628	14768	PubMed: Demuth 2011	-	M	-	Portugal	-	-	-	-	-	AT	-	ATM	ATM	1	1	Patrick Concannon
00109629	-	PubMed: Carranza 2016	-	M	?	Spain	-	-	-	-	-	AT	-	ATM	ATM	2	2	Ignacio J. Molina
00109630	-	PubMed: Carranza 2016	-	-	?	Spain	-	-	-	-	-	AT	-	ATM	ATM	2	1	Ignacio J. Molina
00109631	SVAT13	PubMed: Laake 2000	-	-	-	Sweden	-	-	-	-	-	AT	-	ATM	ATM	1	1	Patrick Concannon
00109632	-	PubMed: Castellvi-Bel 1999	-	-	-	Turkey	-	-	-	-	-	AT	-	ATM	ATM	1	1	Patrick Concannon
00109633	-	PubMed: Li and Swift 2000	-	-	-	-	-	-	-	-	-	AT	-	ATM	ATM	1	1	Patrick Concannon
00109634	-	PubMed: Magliozzi 2006	compound heterozygote, second allele not detected by DHPLC	-	-	-	-	-	-	-	-	AT	-	ATM	ATM	1	1	Patrick Concannon
00109635	-	PubMed: Mitui 2003	-	-	-	Spain	-	-	-	-	-	AT	-	ATM	ATM	2	1	Patrick Concannon
00109636	-	PubMed: Cavalieri 2006	-	-	-	-	-	-	-	-	-	AT	-	ATM	ATM	2	1	Patrick Concannon
00109637	-	PubMed: Magliozzi 2006	-	-	-	-	-	-	-	-	-	AT	-	ATM	ATM	1	1	Patrick Concannon
00109638	Patv11;Pat26;Pat42;55D3	PubMed: Verhagen 2009, PubMed: Verhagen 2012, PubMed: Van Os 2017, PubMed: Van Os 2019	-	F	-	Netherlands	-	-	-	-	-	AT	see papers; ..., 1y-choreo-athetosis; 42m-wheelchair bound; no telangiectasia; no malignancy; no respiratory disease; no immuno-deficiency	ATM	ATM	2	1	Frans BL Hogervorst
00109639	Pat25	PubMed: Verhagen 2012	-	F	-	Netherlands	-	-	-	-	-	AT	-	ATM	ATM	2	1	Frans BL Hogervorst
00109640	-	PubMed: Broeks 1998	-	-	-	-	-	-	-	-	-	AT	-	ATM	ATM	1	1	Patrick Concannon
00109641	-	PubMed: Teraoka 1999; PubMed: Buzin 2003	-	-	-	-	-	-	-	-	-	AT	-	ATM	ATM	2	1	Patrick Concannon
00109642	AT24RM	PubMed: Gilad 1996, PubMed: Hacia 1998, PubMed: Magliozzi 2006	-	-	-	Italy	-	-	-	-	-	AT	-	ATM	ATM	1	1	Patrick Concannon
00109643	Ae005	PubMed: Sandoval 1999	-	-	-	-	-	-	-	-	-	AT	-	ATM	ATM	1	1	Patrick Concannon
00109644	-	PubMed: Li and Swift 2000	-	-	-	-	-	-	-	-	-	AT	-	ATM	ATM	1	1	Patrick Concannon
00109645	-	PubMed: Mitui 2003	-	-	-	-	Iberian	-	-	-	-	AT	-	ATM	ATM	2	1	Patrick Concannon
00109646	-	PubMed: Buzin 2003	-	-	-	-	-	-	-	-	-	AT	-	ATM	ATM	2	1	Patrick Concannon
00109647	Pat5;Pat1	PubMed: Verhagen 2007, PubMed: Verhagen 2012	-	M	-	Netherlands	-	-	-	-	-	AT	-	ATM	ATM	2	1	Frans BL Hogervorst
00109648	-	PubMed: Stankovic 1998	-	-	-	-	-	-	-	-	-	AT	-	ATM	ATM	2	1	Patrick Concannon
00109649	-	PubMed: Teraoka 1999	-	-	-	-	-	-	-	-	-	AT	-	ATM	ATM	1	1	Patrick Concannon
00109650	-	PubMed: Carranza 2016	-	-	?	Spain	-	-	-	-	-	AT	-	ATM	ATM	2	1	Ignacio J. Molina
00109651	-	PubMed: Carranza 2016	-	-	?	Spain	-	-	-	-	-	AT	-	ATM	ATM	2	1	Patrick Concannon
00109652	Ae009	PubMed: Sandoval 1999	-	-	-	-	-	-	-	-	-	AT	-	ATM	ATM	1	1	Patrick Concannon
00109653	-	PubMed: Stankovic 1998	-	-	-	-	-	-	-	-	-	AT	-	ATM	ATM	2	1	Patrick Concannon
00109654	Aa037	PubMed: Sandoval 1999	-	-	-	-	-	-	-	-	-	AT	-	ATM	ATM	2	1	Patrick Concannon
00109655	-	PubMed: Becker-Catania 2000	-	-	-	-	-	-	-	-	-	AT	-	ATM	ATM	2	1	Patrick Concannon
00109656	-	PubMed: Stankovic 1998	-	-	-	-	-	-	-	-	-	AT	-	ATM	ATM	1	1	Patrick Concannon
00109657	AT203LA	PubMed: Coutinho 2005	-	-	-	United States	-	-	-	-	-	AT	-	ATM	ATM	2	1	Patrick Concannon
00109658	-	PubMed: Mitui 2003	-	-	-	-	Iberian	-	-	-	-	AT	-	ATM	ATM	2	1	Patrick Concannon
00109659	SVAT9	PubMed: Laake 2000	-	-	-	Sweden	-	-	-	-	-	AT	-	ATM	ATM	2	1	Patrick Concannon
00109660	SVAT3	PubMed: Laake 2000	-	-	-	Sweden	-	-	-	-	-	AT	-	ATM	ATM	1	1	Patrick Concannon
00109661	-	PubMed: Nakamura 2011	-	-	-	Japan	Japanese	-	-	-	-	AT	-	ATM	ATM	2	1	Kotoka Nakamura
00109662	-	PubMed: Teraoka 1999	-	-	-	-	-	-	-	-	-	AT	-	ATM	ATM	2	1	Patrick Concannon
00109663	-	PubMed: Li and Swift 2000	-	-	-	-	-	-	-	-	-	AT	-	ATM	ATM	1	1	Patrick Concannon

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Global Variome shared LOVD

POMGNT1 (protein O-linked mannose beta1,2-N-acetylg...)