Disease #00181 (CMYO6;MYPOP (myopathy, congenital, type 6, with ophthalmoplegia), OMIM:605637)

Official abbreviation	CMYO6;MYPOP
Name	myopathy, congenital, type 6, with ophthalmoplegia
OMIM ID	605637
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant, Autosomal recessive
Individuals reported having this disease	11
Phenotype entries for this disease	11
Associated with 1 gene	MYH2
Associated tissues	-
Disease features	-
Remarks	-
Date created	2013-09-02 19:33:17 +02:00 (CEST)
Date last edited	2025-02-07 14:50:12 +01:00 (CET)

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
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- (not applicable)
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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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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
>	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
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Example	Matches
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11 entries on 1 page. Showing entries 1 - 11.

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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
00002674	-	PubMed: Darin 1998, PubMed: Martinsson 2000	large family, 19 affecteds	-	no	Sweden	-	-	-	-	-	CMYO6;MYPOP	autosomal dominant inclusion body myopathy, joint contractures, ophthalmoplegia, rimmed vacuoles	MYH2	MYH2	1	19	Homa Tajsharghi
00002919	-	PubMed: Tajsharghi 2010	-	F	no	United Kingdom (Great Britain)	-	>41y	-	-	-	CMYO6;MYPOP	pronounced opthalmoplegia; ptosis; ...	MYH2	MYH2	2	1	Homa Tajsharghi
00002920	-	PubMed: Tajsharghi 2010	-	F	no	United Kingdom (Great Britain)	-	>42y	-	-	-	CMYO6;MYPOP	pronounced opthalmoplegia; no ptosis; ...	MYH2	MYH2	2	1	Homa Tajsharghi
00002921	-	PubMed: Tajsharghi 2010	-	M	no	United Kingdom (Great Britain)	-	>44y	-	-	-	CMYO6;MYPOP	pronounced opthalmoplegia; no ptosis; ...	MYH2	MYH2	2	1	Homa Tajsharghi
00002925	-	PubMed: Tajsharghi 2010	-	M	no	Finland	-	>58y	-	-	-	CMYO6;MYPOP	pronounced opthalmoplegia; no ptosis; ...	MYH2	MYH2	2	1	Homa Tajsharghi
00002928	-	PubMed: Tajsharghi 2010	-	M	no	Finland	-	>59y	-	-	-	CMYO6;MYPOP	pronounced opthalmoplegia; ptosis; ...	MYH2	MYH2	2	1	Homa Tajsharghi
00002929	-	PubMed: Lossos 2013	22 affecteds from 8 families	-	yes	Israel	Arab	-	-	-	-	CMYO6;MYPOP	external ophthalmoplegia; conjugate non-restrictive ocular motility impairment, no ptosis, mild facial/limb muscle weakness, scoliosis; skeletal muscle biopsy marked type 1 fibre predominance	-	-	-	22	Homa Tajsharghi
00002930	-	PubMed: Lossos 2013	affected-1 from families	-	yes	Israel	Arab	-	-	-	-	CMYO6;MYPOP	-	MYH2	MYH2	2	1	Homa Tajsharghi
00002931	-	PubMed: Lossos 2013	affected-2 from families	-	yes	Israel	Arab	-	-	-	-	CMYO6;MYPOP	-	MYH2	MYH2	2	1	Homa Tajsharghi
00002933	-	PubMed: Lossos 2013	affected individual	M	?	Israel	-	-	-	-	-	CMYO6;MYPOP	-	MYH2	MYH2	2	1	Homa Tajsharghi
00435182	257846	-	-	M	no	Germany	-	-	-	-	-	CMYO6;MYPOP	Axial muscle weakness, Skeletal muscle atrophy, Motor delay, Poor suck, Difficulty descending stairs, Strabismus	MYH2	MYH2	2	1	Andreas Laner

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Global Variome shared LOVD

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