Disease #00885 (AGS1 (Aicardi-Goutieres syndrome, type 1, dominant and recessive (AGS1)), OMIM:225750)

Official abbreviation	AGS1
Name	Aicardi-Goutieres syndrome, type 1, dominant and recessive (AGS1)
OMIM ID	225750
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant, Autosomal recessive
Individuals reported having this disease	42
Phenotype entries for this disease	42
Associated with 1 gene	TREX1
Associated tissues	-
Disease features	-
Remarks	-

Individuals

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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.

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combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
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\|	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
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>=	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
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<	Numeric	<23	all entries lower than 23
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Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
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"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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42 entries on 1 page. Showing entries 1 - 42.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00112321	-	Prof. YJ Crow, Univ Manchester, unpublished	-	-	-	Brazil	-	-	-	-	AGS1	Aicardi Goutieres Syndrome	TREX1	ATRIP, TREX1	2	1	Boukje de Vries
00112323	-	PubMed: Haaxma 2010	de novo heterozygous mutation	-	-	-	-	-	-	-	AGS1	Aicardi-Goutieres Syndrome 1	TREX1	TREX1	1	1	Boukje de Vries
00112325	-	Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished	-	-	-	-	-	-	-	-	AGS1	Aicardi-Goutieres Syndrome	TREX1	ATRIP, TREX1	1	1	Lampros Mavrogiannis
00112326	-	Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished	-	-	-	-	-	-	-	-	AGS1	Aicardi-Goutieres Syndrome	TREX1	TREX1	1	3	Lampros Mavrogiannis
00112327	-	Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished	-	-	-	-	-	-	-	-	AGS1	Aicardi-Goutieres Syndrome	TREX1	TREX1	2	1	Lampros Mavrogiannis
00112328	-	Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished	single heterozygous mutation - second, if present, uncharacterised	-	-	-	-	-	-	-	AGS1	Aicardi-Goutieres Syndrome	TREX1	TREX1	1	1	Lampros Mavrogiannis
00112329	-	PubMed: Crow 2006	homozygous mutation	-	-	-	-	-	-	-	AGS1	Aicardi-Goutieres Syndrome 1	TREX1	ATRIP, TREX1	1	8	Boukje de Vries
00112330	-	Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished	-	-	-	-	-	-	-	-	AGS1	Aicardi-Goutieres Syndrome	TREX1	TREX1	2	1	Lampros Mavrogiannis
00112331	-	Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished	-	-	-	-	-	-	-	-	AGS1	Aicardi-Goutieres Syndrome	TREX1	TREX1	2	1	Lampros Mavrogiannis
00112332	-	PubMed: Ramantani 2010	compound heterozygous mutation with R114H	-	-	-	-	-	-	-	AGS1	Aicardi-Goutieres Syndrome 1	TREX1	TREX1	1	1	Boukje de Vries
00112333	-	Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished	-	-	-	-	-	-	-	-	AGS1	Aicardi-Goutieres Syndrome	TREX1	TREX1	1	1	Lampros Mavrogiannis
00112334	-	PubMed: Rice 2007	homozygous mutation	-	-	-	-	-	-	-	AGS1	Aicardi-Goutieres Syndrome 1	TREX1	TREX1	1	2	Boukje de Vries
00112335	-	Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished	-	-	-	-	-	-	-	-	AGS1	Aicardi-Goutieres Syndrome	TREX1	TREX1	1	1	Lampros Mavrogiannis
00112336	-	Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished	-	-	-	-	-	-	-	-	AGS1	Aicardi-Goutieres Syndrome	TREX1	TREX1	2	1	Lampros Mavrogiannis
00112337	-	PubMed: Crow 2006	homozygous and compound heterozygous mutation for AGS1, also identied as heterozygous mutation in SLE patient	-	-	-	-	-	-	-	AGS1	Aicardi-Goutieres Syndrome 1	TREX1	ATRIP, TREX1	1	18	Boukje de Vries
00112338	-	Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished	one case with heterozygosity for the RNASEH2B mutation c.529G>A as well - unclear significance	-	-	-	-	-	-	-	AGS1	Aicardi-Goutieres Syndrome	TREX1	ATRIP, TREX1	1	5	Lampros Mavrogiannis
00112339	-	Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished	-	-	-	-	-	-	-	-	AGS1	Aicardi-Goutieres Syndrome	TREX1	TREX1	2	1	Lampros Mavrogiannis
00112340	-	Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished	-	-	-	-	-	-	-	-	AGS1	Aicardi-Goutieres Syndrome	TREX1	ATRIP, TREX1	2	1	Lampros Mavrogiannis
00112341	-	Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished	-	-	-	-	-	-	-	-	AGS1	Aicardi-Goutieres Syndrome	TREX1	TREX1	2	1	Lampros Mavrogiannis
00112342	-	Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished	-	-	-	-	-	-	-	-	AGS1	Aicardi-Goutieres Syndrome	TREX1	TREX1	2	1	Lampros Mavrogiannis
00112343	-	Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished	single heterozygous mutation - second, if present, uncharacterised	-	-	-	-	-	-	-	AGS1	Aicardi-Goutieres Syndrome	TREX1	ATRIP, TREX1	1	1	Lampros Mavrogiannis
00112344	-	Prof. YJ Crow, Univ Manchester, unpublished	-	-	-	Belgium	-	-	-	-	AGS1	Aicardi Goutieres Syndrome	TREX1	TREX1	2	1	Boukje de Vries
00112345	-	PubMed: Rice 2007	homozygous mutation	-	-	-	-	-	-	-	AGS1	Aicardi-Goutieres Syndrome 1	TREX1	TREX1	1	1	Boukje de Vries
00112346	-	PubMed: Rice 2007	homozygous mutation	-	-	-	-	-	-	-	AGS1	Aicardi-Goutieres Syndrome 1	TREX1	TREX1	1	1	Boukje de Vries
00112349	-	PubMed: Rice 2007	homozygous mutation	-	-	-	-	-	-	-	AGS1	Aicardi-Goutieres Syndrome 1	TREX1	TREX1	1	2	Boukje de Vries
00112350	-	PubMed: Rice 2007	homozygous and compound heterozygous mutation	-	-	-	-	-	-	-	AGS1	Aicardi-Goutieres Syndrome 1	TREX1	TREX1	1	2	Boukje de Vries
00112353	-	PubMed: Ramantani 2010	compound heterozygous mutation with R114H	-	-	-	-	-	-	-	AGS1	Aicardi-Goutieres Syndrome 1	TREX1	TREX1	1	1	Boukje de Vries
00112354	-	PubMed: Rice 2007	homozygous mutation	-	-	-	-	-	-	-	AGS1	Aicardi-Goutieres Syndrome 1	TREX1	TREX1	1	1	Boukje de Vries
00112355	-	Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished	heterozygous variant	-	-	-	-	-	-	-	AGS1	Aicardi-Goutieres Syndrome	TREX1	TREX1	1	1	Lampros Mavrogiannis
00112356	-	PubMed: Ramantani 2010	homozygous mutation	-	-	-	-	-	-	-	AGS1	Aicardi-Goutieres Syndrome 1	TREX1	TREX1	1	1	Boukje de Vries
00112357	-	PubMed: Rice 2007	heterozygous de novo mutation	-	-	-	-	-	-	-	AGS1	Aicardi-Goutieres Syndrome 1	TREX1	TREX1	1	1	Boukje de Vries
00112358	-	PubMed: Ramantani 2010	heterozygous, de novo mutation	-	-	-	-	-	-	-	AGS1	Aicardi-Goutieres Syndrome 1	TREX1	TREX1	1	1	Boukje de Vries
00112359	-	PubMed: Crow 2006	compound heterozygous mutation with R114H	-	-	-	-	-	-	-	AGS1	Aicardi-Goutieres Syndrome 1	TREX1	TREX1	1	2	Boukje de Vries
00112360	-	PubMed: Crow 2006	homozygous mutation	-	-	-	-	-	-	-	AGS1	Aicardi-Goutieres Syndrome 1	TREX1	TREX1	1	2	Boukje de Vries
00112361	-	PubMed: Rice 2007	homozygous mutation	-	-	-	-	-	-	-	AGS1	Aicardi-Goutieres Syndrome 1	TREX1	TREX1	1	2	Boukje de Vries
00112362	-	PubMed: Rice 2007	homozygous mutation	-	-	-	-	-	-	-	AGS1	Aicardi-Goutieres Syndrome 1	TREX1	TREX1	1	1	Boukje de Vries
00112363	-	PubMed: Rice 2007	homozygous mutation	-	-	-	-	-	-	-	AGS1	Aicardi-Goutieres Syndrome 1	TREX1	TREX1	1	2	Boukje de Vries
00112365	-	PubMed: Ramantani 2010	compound heterozygous mutation with R114H	-	-	-	-	-	-	-	AGS1	Aicardi-Goutieres Syndrome 1	TREX1	TREX1	1	1	Boukje de Vries
00112374	-	PubMed: Ramantani 2010	homozygous mutation	-	-	-	-	-	-	-	AGS1	Aicardi-Goutieres Syndrome 1	TREX1	ATRIP, TREX1	1	1	Boukje de Vries
00112375	-	PubMed: Rice 2007	homozygous mutation	-	-	-	-	-	-	-	AGS1	Aicardi-Goutieres Syndrome 1	TREX1	TREX1	1	2	Boukje de Vries
00112376	-	Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished	-	-	-	-	-	-	-	-	AGS1	Aicardi-Goutieres Syndrome	TREX1	TREX1	1	1	Lampros Mavrogiannis
00112378	-	PubMed: Rice 2007	homozygous mutation	-	-	-	-	-	-	-	AGS1	Aicardi-Goutieres Syndrome 1	TREX1	TREX1	1	2	Boukje de Vries

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