Disease #04119 (TAM2 (myopathy, tubular aggregates, type 2), OMIM:615883)

Official abbreviation	TAM2
Name	myopathy, tubular aggregates, type 2
OMIM ID	615883
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	9
Phenotype entries for this disease	9
Associated with 1 gene	ORAI1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2025-08-01 14:05:35 +02:00 (CEST)

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
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Algeria
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American Samoa
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Andorra
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Angola
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Brazil
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Brunei Darussalam
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Bulgaria
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Burkina Faso
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Burundi
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Cambodia
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Cameroon
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Canada
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Cape Verde
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Central African Republic
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Central Europe
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Chile
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China
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Christmas Island
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Cocos (Keeling Islands)
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Colombia
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Comoros
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Cook Islands
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Cuba
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Georgia
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Germany
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Ghana
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Kenya
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Laos
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Latvia
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Lesotho
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Liberia
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Libya
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Romania
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Scotland
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Singapore
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Spain
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Cunha
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Cunha)
St. Pierre and Miquelon
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Sudan
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Sweden
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Switzerland
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Syria
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Taiwan
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Tajikistan
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Tanzania
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Thailand
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Togo
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Tokelau
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Tonga
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Trinidad and Tobago
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Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
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Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
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Uganda
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Ukraine
(Ukraine)
United Arab Emirates
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United Kingdom (Great Britain)
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United States
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Uruguay
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US Minor Outlying Islands
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Vanuatu
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Viet Nam
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Virgin Islands (British)
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Virgin Islands (US)
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Wales
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Wallis and Futuna Islands
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Western Sahara
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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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Operator	Column type	Example	Matches
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^	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'
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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
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Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
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"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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9 entries on 1 page. Showing entries 1 - 9.

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How to query

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
00029007	-	PubMed: Endo 2015	3-generation family, 2 affecteds (mother and son)	-	no	Japan	-	-	-	-	-	TAM2	see paper; ..	ORAI1	ORAI1	1	2	Johan den Dunnen
00029008	-	PubMed: Endo 2015	2-generation family, 3 affecteds (mother, son, daugther	-	no	Japan	-	-	-	-	-	TAM2	see paper; ...	ORAI1	ORAI1	1	3	Johan den Dunnen
00029009	-	PubMed: Endo 2015	2-generation family, 1 affected	M	no	Japan	-	-	-	-	-	TAM2	see paper; ..	ORAI1	ORAI1	1	1	Johan den Dunnen
00029010	-	PubMed: Nesin 2014, PubMed: Shahrizaila 2004	6-generation family, 10 affecteds (5F, 5M)	-	no	United Kingdom (Great Britain)	-	-	-	-	-	TAM2	see paper; ..	ORAI1	ORAI1	1	10	Johan den Dunnen
00091697	-	-	-	M	no	Honduras	-	-	-	-	-	TAM2	-	ORAI1	ORAI1	1	1	Johann Böhm
00091698	-	-	-	M	no	United Kingdom (Great Britain)	-	-	-	-	-	TAM2	-	ORAI1	ORAI1	1	1	Johann Böhm
00091699	-	-	-	M	no	Italy	-	-	-	-	-	TAM2	-	ORAI1	ORAI1	1	1	Johann Böhm
00451485	294869	-	-	M	no	Germany	-	-	-	-	-	TAM2	Muscular dystrophy, Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Muscle weakness, Exercise-induced muscle fatigue	ORAI1	ORAI1	1	1	Andreas Laner
00466073	-	-	-	M	no	Spain	-	-	-	-	-	TAM2	Miosis, Rigid spine, Muscle weakness, Tubular aggregates in muscular biopsy, Increased serum creatine kinase. Reference: 25227914, 36806330, 29184031.	-	ORAI1	1	1	Maria Elena García Paya

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