Disease #05330 (TSC (tuberous sclerosis))

Official abbreviation	TSC
Name	tuberous sclerosis
OMIM ID	-
Inheritance	-
Individuals reported having this disease	8401
Phenotype entries for this disease	8382
Associated with 2 genes	TSC1, TSC2
Associated tissues	-
Disease features	-
Remarks	-
Date created	2017-09-19 09:35:08 +02:00 (CEST)
Date last edited	2022-08-19 09:49:37 +02:00 (CEST)

Individuals

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.

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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
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
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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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8401 entries on 85 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
00000019	-	PubMed: Almomani 2011	-	-	-	-	-	-	-	-	-	autism, BMD/DMD, TSC	-	AFF2, ALG12, ALG6, B3GLCT, B4GALT1, BBS12, CDK5RAP2, CENPJ, CRBN, DHCR7, EP300, IL1RAPL1, KDM5C, KRAS, MCPH1, MED12, NSD1, NUFIP1, POMT1, RAB3GAP2, RAF1, SATB2, SCN8A, SIL1, TSC1	AFF2, ALG12, B3GLCT, B4GALT1, BBS12, CDK5RAP2, CENPJ, CRBN, DHCR7, EP300, IL1RAPL1, KDM5C, KRAS, MCPH1, MED12, MFN2, NSD1, NUFIP1, POMT1, RAB3GAP2, RAF1, SATB2, SCN8A, SIL1, TSC1	44	1	Global Variome, with Curator vacancy
00004519	-	unpublished	-	-	-	-	-	-	-	-	-	TSC	-	TSC1, TSC2	TSC2	1	1	Rosemary Ekong
00004520	-	unpublished	patient has TSC2 missense c.3095G>C, TSC2 intronic variant c.5161-26_5161-23del and other recurrent variants in TSC1 (c.1335A>G and c.1334-55C>G) and in TSC2 (c.976-63G>A, c.1578C>T, c.1600-14C>T, c.3884-56C>G, c.5202T>C, c.5161-10A>C and c.5397G>C); TSC2 c.3095G>C not seen in parents or sibling	-	-	-	-	-	-	-	-	TSC	-	TSC1, TSC2	TSC2	2	4	Rosemary Ekong
00004521	-	unpublished	familial case; 4 affecteds - 1 has mild phenotype and 3 have several TSC symptoms	-	-	Spain	-	-	-	-	-	TSC	-	TSC1, TSC2	TSC2	1	4	Rosemary Ekong
00004522	-	unpublished	-	-	-	Spain	-	-	-	-	-	TSC	renal dysplasia (HP:0000110)	TSC1, TSC2	TSC2	1	1	Rosemary Ekong
00004523	-	unpublished	sporadic case	F	?	Spain	-	-	-	-	-	TSC	bilateral renal hamartomas (HP:0008696), intraventricular tumour (3 months of life)	TSC1, TSC2	TSC2	1	1	Rosemary Ekong
00004524	-	unpublished	sporadic case; TS affected patient; no other variant found in patient; both phenotypically unaffected parents reported to have same DNA change	?	-	Spain	-	-	-	-	-	TSC	-	TSC1, TSC2	TSC2	1	1	Rosemary Ekong
00004525	-	unpublished	clinical diagnosis of TS in patient; intellectual disability in some family members	-	-	Spain	-	-	-	-	-	TSC	facial angiofibromas (HP:0009720)	TSC1, TSC2	TSC2	1	1	Rosemary Ekong
00004526	-	unpublished	-	-	-	-	-	-	-	-	-	TSC	-	TSC1, TSC2	TSC2	1	1	Rosemary Ekong
00004527	-	unpublished	-	-	-	-	-	-	-	-	-	TSC	-	TSC1, TSC2	TSC2	1	1	Rosemary Ekong
00038387	-	-	-	M	no	United States	-	-	-	-	-	TSC	angiofibromas (≥3, HP:0010615) or fibrous cephalic plaque;hypomelanotic macules (≥3, at least 5-mm diameter, HP:0009719)	TSC1	TSC1	1	1	Sonal Desai
00038388	-	-	-	M	no	United States	-	-	-	-	-	TSC	cortical tubers, angiomyolipomas (≥2, HP:0006772);cardiac rhabdomyoma (HP:0009729);hypomelanotic macules (≥3, at least 5-mm diameter, HP:0009719);Shagreen patch (HP:0009721);subependymal giant cell astrocytoma (HP:0009718)	TSC1, TSC2	TSC1	1	1	Sonal Desai
00038389	-	-	-	M	no	-	-	-	-	-	-	TSC	cortical tubers, hypomelanotic macules (≥3, at least 5-mm diameter, HP:0009719);subependymal giant cell astrocytoma (HP:0009718);subependymal nodules (HP:0009716)	TSC1, TSC2	TSC1	1	1	Sonal Desai
00038390	-	-	-	F	no	-	-	-	-	-	-	TSC	angiofibromas (≥3, HP:0010615) or fibrous cephalic plaque;angiomyolipomas (≥2, HP:0006772);cardiac rhabdomyoma (HP:0009729);hypomelanotic macules (≥3, at least 5-mm diameter, HP:0009719);subependymal giant cell astrocytoma (HP:0009718);subependymal nodules (HP:0009716)	TSC1, TSC2	TSC2	1	1	Sonal Desai
00038391	-	-	-	M	no	-	-	-	-	-	-	TSC	angiofibromas (≥3, HP:0010615) or fibrous cephalic plaque;angiomyolipomas (≥2, HP:0006772);cardiac rhabdomyoma (HP:0009729);hypomelanotic macules (≥3, at least 5-mm diameter, HP:0009719);multiple renal cysts (HP:0000107);multiple retinal hamartomas (HP:0009594);nonrenal hamartomas;subependymal nodules (HP:0009716)	TSC1, TSC2	TSC2	1	1	Sonal Desai
00038392	-	-	-	M	-	United States	-	-	-	-	-	TSC	dental enamel pits (>3, HP:0009722);hypomelanotic macules (≥3, at least 5-mm diameter, HP:0009719);subependymal giant cell astrocytoma (HP:0009718);subependymal nodules (HP:0009716);ungual fibromas (≥2, HP:0100804), cortical tubers and white matter radial migration lines	TSC1, TSC2	TSC1	1	1	Sonal Desai
00038393	-	-	-	F	no	United States	-	-	-	-	-	TSC	cortical tubers, angiofibromas (≥3, HP:0010615) or fibrous cephalic plaque;multiple renal cysts (HP:0000107);Shagreen patch (HP:0009721)	TSC1, TSC2	TSC1	1	1	Sonal Desai
00079880	-	-	-	-	-	Germany	-	-	-	-	-	TSC	-	TSC2	TSC2	1	1	Gemeinschaftspraxis für Humangenetik Dresden
00143221	165	PubMed: Jones 1999	-	?	?	-	-	-	-	-	-	TSC	-	TSC1, TSC2	TSC2	1	1	Rosemary Ekong
00143222	5773	PubMed: European TSC consortium 1993	affected parent also had intragenic deletion	?	?	-	-	-	-	-	-	TSC	-	TSC1, TSC2	TSC2	1	2	Rosemary Ekong
00143223	WS-80	PubMed: European TSC consortium 1993	parents thought to be unaffected; parental DNA unavailable for testing	?	?	-	-	-	-	-	-	TSC	-	TSC1, TSC2	TSC2	1	1	Rosemary Ekong
00143224	1737	PubMed: European TSC consortium 1993	parents thought to be unaffected; parental DNA unavailable for testing	?	?	-	-	-	-	-	-	TSC	-	TSC1, TSC2	TSC2	1	1	Rosemary Ekong
00143225	WS-11	PubMed: European TSC consortium 1993	deletion not found in parents	?	?	-	-	-	-	-	-	TSC	-	TSC1, TSC2	TSC2	1	1	Rosemary Ekong
00143227	-	PubMed: Jones 1997	variant absent in both parents	?	?	-	-	-	-	-	-	TSC	-	TSC1, TSC2	TSC2	1	1	Rosemary Ekong
00143228	-	PubMed: Jones 1997	variant absent in both parents	?	?	-	-	-	-	-	-	TSC	-	TSC1, TSC2	TSC2	1	1	Rosemary Ekong
00143229	-	PubMed: Jones 1997	2nd patient reported in this paper; variant absent in both parents	?	?	-	-	-	-	-	-	TSC	-	TSC1, TSC2	TSC2	1	1	Rosemary Ekong
00143230	T1218	PubMed: European TSC consortium 1993	-	?	?	Netherlands	-	-	-	-	-	TSC	-	TSC1, TSC2	TSC2	1	2	Rosemary Ekong
00143231	T3897	PubMed: European TSC consortium 1993	-	?	?	Poland	-	-	-	-	-	TSC	-	TSC1, TSC2	TSC2	1	1	Rosemary Ekong
00143232	T4793	originally vd Ouweland	-	?	?	Portugal	-	-	-	-	-	TSC	-	TSC1, TSC2	TSC2	1	2	Rosemary Ekong
00143233	T3934	originally vd Ouweland	-	?	?	Poland	-	-	-	-	-	TSC	-	TSC1, TSC2	TSC2	1	1	Rosemary Ekong
00143234	T1207C	PubMed: Langkau 2002	-	?	?	-	-	-	-	-	-	TSC	-	TSC1, TSC2	TSC2	1	1	Rosemary Ekong
00143235	-	PubMed: Wang 1998	father is affected; father and son have same genomic change	M	?	Netherlands	-	-	-	-	-	TSC	Son has macrocephaly (HP:0000256), hypotonia; Father has facial angiofibroma (HP:0009720), ungual fibroma (HP:0100804), renal angiomyolipoma (HP:0006772), renal cysts (HP:0000107), severe renal problems with hematuria (HP:0000790), hypomelanotic macules (HP:0009719), buccal fibroma (HP:0000169), multiple dental pits (HP:0009722), seizures (HP:0001250), normal intelligence	TSC1, TSC2	TSC2	1	2	Rosemary Ekong
00143236	-	PubMed: Rendtorff 2005	-	?	?	-	-	-	-	-	-	TSC	-	TSC1, TSC2	TSC2	1	1	Rosemary Ekong
00143237	-	PubMed: Rendtorff 2005	different patient reported in this paper	?	?	-	-	-	-	-	-	TSC	-	TSC1, TSC2	TSC2	1	1	Rosemary Ekong
00143238	-	unpublished	-	M	?	-	-	-	-	-	-	TSC	-	TSC1, TSC2	TSC2	1	1	Rosemary Ekong
00143239	-	unpublished	-	M	?	-	-	-	-	-	-	TSC	-	TSC1, TSC2	TSC2	1	1	Rosemary Ekong
00143240	-	unpublished	-	F	?	-	-	-	-	-	-	TSC	-	TSC1, TSC2	TSC2	1	1	Rosemary Ekong
00143241	-	unpublished	-	M	?	-	-	-	-	-	-	TSC	-	TSC1, TSC2	TSC2	1	1	Rosemary Ekong
00143242	-	unpublished	TS affected	F	?	-	-	-	-	-	-	TSC	-	TSC1, TSC2	TSC2	1	1	Rosemary Ekong
00143243	-	PubMed: Sancak 2005	diagnosed with definite TSC	?	?	-	-	-	-	-	-	TSC	-	TSC1, TSC2	TSC2	1	2	Rosemary Ekong
00143244	-	unpublished	entry represents 2 different cases	?	?	-	-	-	-	-	-	TSC	-	TSC1, TSC2	TSC2	1	2	Rosemary Ekong
00143245	-	PubMed: Tyburczy 2014	childhood onset and adult diagnosis of TSC	F	?	-	-	-	-	-	-	TSC	-	TSC1, TSC2	TSC2	1	1	Rosemary Ekong
00143246	-	unpublished	patient referred for diagnostic TS testing	M	?	-	-	-	-	-	-	TSC	bilateral SEN and multiple cardiac rhabdomyoma in patient, single dental pit (HP:0009722) and ambiguous pigmentory change in one parent; renal cysts	TSC1, TSC2	TSC2	1	1	Rosemary Ekong
00143247	-	unpublished	index has suspected TS on CT scan and a large head	M	?	-	-	-	-	-	-	TSC	macrocephaly (HP:0000256)	TSC1, TSC2	TSC2	1	1	Rosemary Ekong
00143248	-	unpublished	index reported as possibly a somatic mosaic; one parent tested and the other parent not tested	M	?	-	-	-	-	-	-	TSC	one parent has <3 hypomelanotic macules (HP:0009719)	TSC1, TSC2	TSC2	1	1	Rosemary Ekong
00143249	-	unpublished	patient reported as possibly a somatic mosaic; no clinical features indicated; parents not tested	M	?	-	-	-	-	-	-	TSC	-	TSC1, TSC2	TSC2	1	1	Rosemary Ekong
00143250	-	unpublished	patient also has NF1 inherited from one parent	M	?	-	-	-	-	-	-	TSC	neurofibromatosis (NF-1, HP:0001067)	TSC1, TSC2	TSC2	1	1	Rosemary Ekong
00143251	-	unpublished	patient diagnosed with definite TS; both parents reported as phenotypically unaffected but not examined; parents not tested	M	?	-	-	-	-	-	-	TSC	global developmental delay;	TSC1, TSC2	TSC2	1	1	Rosemary Ekong
00143252	-	unpublished	-	M	?	-	-	-	-	-	-	TSC	-	TSC1, TSC2	TSC2	1	1	Rosemary Ekong
00143253	-	unpublished	both parents reported as unaffected but not tested	M	?	-	-	-	-	-	-	TSC	speech delayed (HP:0000750), polycystic kidney disease (PKD-1, HP:0000113)	TSC1, TSC2	TSC2	1	1	Rosemary Ekong
00143254	-	unpublished	TS affected	F	?	-	-	-	-	-	-	TSC	-	TSC1, TSC2	TSC2	1	1	Rosemary Ekong
00143255	-	unpublished	TS affected	F	?	-	-	-	-	-	-	TSC	polycystic kidney disease (PKD-1, HP:0000113)	TSC1, TSC2	TSC2	1	1	Rosemary Ekong
00143256	-	unpublished	TS affected; both parents reported as unaffected	F	?	-	-	-	-	-	-	TSC	-	TSC1, TSC2	TSC2	1	1	Rosemary Ekong
00143257	-	unpublished	TS affected; the one parent tested is reported as unaffected	F	?	-	-	-	-	-	-	TSC	-	TSC1, TSC2	TSC2	1	1	Rosemary Ekong
00143258	-	PubMed: Kwiatkowski 2015	TSC affected patient with SEGA	?	?	-	-	-	-	-	-	TSC	-	TSC1, TSC2	TSC2	1	1	Rosemary Ekong
00143259	-	PubMed: Kwiatkowski 2015	patient has TSC with AML	?	?	-	-	-	-	-	-	TSC	-	TSC1, TSC2	TSC2	1	1	Rosemary Ekong
00143260	-	PubMed: Lee 2014	-	?	?	Korea	-	-	-	-	-	TSC	-	TSC1, TSC2	TSC2	1	1	Rosemary Ekong
00143261	-	PubMed: Lee 2014	-	?	?	Korea	-	-	-	-	-	TSC	-	TSC1, TSC2	TSC2	1	1	Rosemary Ekong
00164338	-	-	-	-	-	-	-	-	-	-	-	TSC	-	TSC2	TSC2	1	1	Gemeinschaftspraxis für Humangenetik Dresden
00165194	-	-	TSC suspected	-	-	-	-	-	-	-	-	TSC	-	TSC1, TSC2	TSC1	1	1	Gemeinschaftspraxis für Humangenetik Dresden
00180298	-	PubMed: Regazzo 2018	62yr old TSC patient with subsequent silent gonadotroph pituitary neuroendocrine tumour; no Fx TSC and no other TSC features (no renal, cardiac, skin, or lung features) TSC diagnosis only made after recognising symptoms in son; single PitNET seen on MRI; no recurrent pituitary adenoma (May 2018)	F	?	-	white	-	-	-	PitNET resection	TSC	, 32yr old son has Cognitive impairment (HP:01005430) and neurobehavioural abnormalities from childhood	TSC1, TSC2	TSC2	1	1	Rosemary Ekong
00208790	-	-	-	F	-	Germany	-	-	-	-	-	TSC	HP:0000951 (Abnormality of the skin); HP:0001028 (Hemangioma); HP:0010786 (Urinary tract neoplasm); HP:0001250 (Seizures); HP:0005584 (Renal cell carcinoma); HP:0012638 (Abnormality of nervous system physiology); HP:0007620 (Cutaneous leiomyoma)	-	CHEK2, TSC1	2	1	Andreas Laner
00218930	-	-	-	-	-	-	-	-	-	-	-	TSC	-	TSC2	TSC2	1	1	Gemeinschaftspraxis für Humangenetik Dresden
00222966	-	unpublished	7bp deletion of CGTCTCC described as 818_824del7bp	?	-	-	-	-	-	-	-	TSC	-	TSC1	TSC1	1	1	Rosemary Ekong
00222967	-	unpublished	-	?	-	-	-	-	-	-	-	TSC	-	TSC1	TSC1	1	1	Rosemary Ekong
00222968	-	unpublished	patient also has TSC2 missense c.1747G>A	?	-	-	-	-	-	-	-	TSC	-	TSC1	TSC1	1	1	Rosemary Ekong
00222969	-	unpublished	6th case	?	-	-	-	-	-	-	-	TSC	-	TSC1	TSC1	1	1	Rosemary Ekong
00222970	-	unpublished	3rd case reported; patient has TSC1 c.965T>C	F	-	-	-	-	-	-	-	TSC	-	TSC1	TSC1	1	1	Rosemary Ekong
00222971	-	unpublished	7th case	?	-	-	-	-	-	-	-	TSC	-	TSC1	TSC1	1	1	Rosemary Ekong
00222972	-	unpublished	-	M	-	-	-	-	-	-	-	TSC	-	TSC1	TSC1	1	1	Rosemary Ekong
00222973	-	unpublished	patient has TSC2 c.4990-6G>A	?	-	-	-	-	-	-	-	TSC	-	TSC1	TSC1	1	1	Rosemary Ekong
00222974	-	unpublished	-	?	-	-	-	-	-	-	-	TSC	-	TSC1	TSC1	1	1	Rosemary Ekong
00222975	-	unpublished	-	?	-	-	-	-	-	-	-	TSC	-	TSC1	TSC1	1	1	Rosemary Ekong
00222976	-	unpublished	-	?	-	-	-	-	-	-	-	TSC	-	TSC1	TSC1	1	1	Rosemary Ekong
00222977	-	unpublished	-	?	-	-	-	-	-	-	-	TSC	-	TSC1	TSC1	1	1	Rosemary Ekong
00222978	-	unpublished	4th case	?	-	-	-	-	-	-	-	TSC	-	TSC1	TSC1	1	1	Rosemary Ekong
00222979	-	unpublished	3rd case	?	-	-	-	-	-	-	-	TSC	-	TSC1	TSC1	1	1	Rosemary Ekong
00222980	-	unpublished	3rd case	?	-	-	-	-	-	-	-	TSC	-	TSC1	TSC1	1	1	Rosemary Ekong
00222981	-	unpublished	patient has known TSC1 missense c.965T>C and TSC1 silent variant c.1335A>G	?	-	-	-	-	-	-	-	TSC	-	TSC1	TSC1	1	1	Rosemary Ekong
00222982	-	unpublished	patient has TSC2 frameshift c.731_732del	?	-	-	-	-	-	-	-	TSC	-	TSC1	TSC1	1	1	Rosemary Ekong
00222983	-	unpublished	-	?	-	-	-	-	-	-	-	TSC	-	TSC1	TSC1	1	1	Rosemary Ekong
00222984	-	unpublished	patient also has TSC2 nonsense c.1874C>G	?	-	-	-	-	-	-	-	TSC	-	TSC1	TSC1	1	1	Rosemary Ekong
00222985	-	unpublished	different case to that in Jones, 1997	F	-	-	-	-	-	-	-	TSC	-	TSC1	TSC1	1	1	Rosemary Ekong
00222986	-	unpublished	all cases different from those in Jones, 1997	?	-	-	-	-	-	-	-	TSC	-	TSC1	TSC1	1	70	Rosemary Ekong
00222987	-	unpublished	variant seen in unaffected parent of an affected child	?	-	-	-	-	-	-	-	TSC	-	TSC1	TSC1	1	1	Rosemary Ekong
00222988	-	unpublished	-	?	-	-	-	-	-	-	-	TSC	-	TSC1	TSC1	1	1	Rosemary Ekong
00222989	-	unpublished	-	?	-	-	-	-	-	-	-	TSC	-	TSC1	TSC1	1	1	Rosemary Ekong
00222990	-	unpublished	-	?	-	-	-	-	-	-	-	TSC	-	TSC1	TSC1	1	1	Rosemary Ekong
00222991	-	unpublished	-	?	-	-	-	-	-	-	-	TSC	-	TSC1	TSC1	1	1	Rosemary Ekong
00222992	-	unpublished	-	?	-	-	-	-	-	-	-	TSC	-	TSC1	TSC1	1	1	Rosemary Ekong
00222993	-	PubMed: Mozaffari, 2009; PubMed: Hoogeveen-Westerveld, 2011	no other variant found	?	-	-	-	-	-	-	-	TSC	-	TSC1	TSC1	1	1	Rosemary Ekong
00222994	-	unpublished	-	?	-	-	-	-	-	-	-	TSC	-	TSC1	TSC1	1	1	Rosemary Ekong
00222995	-	unpublished	-	M	-	-	-	-	-	-	-	TSC	-	TSC1	TSC1	1	1	Rosemary Ekong
00222996	-	unpublished	-	?	-	-	-	-	-	-	-	TSC	-	TSC1	TSC1	1	1	Rosemary Ekong
00222997	-	unpublished	-	?	-	-	-	-	-	-	-	TSC	-	TSC1	TSC1	1	1	Rosemary Ekong
00222998	-	unpublished	-	?	-	-	-	-	-	-	-	TSC	-	TSC1	TSC1	1	1	Rosemary Ekong
00222999	-	unpublished	3rd patient	?	-	-	-	-	-	-	-	TSC	-	TSC1	TSC1	1	1	Rosemary Ekong
00223000	-	unpublished	4th patient	?	-	-	-	-	-	-	-	TSC	-	TSC1	TSC1	1	1	Rosemary Ekong
00223001	-	unpublished	-	?	-	-	-	-	-	-	-	TSC	-	TSC1	TSC1	1	1	Rosemary Ekong
00223002	-	unpublished	-	?	-	-	-	-	-	-	-	TSC	-	TSC1	TSC1	1	1	Rosemary Ekong

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