GRCh37/hg19 7q21.3(chr7:93516132-95668733) AND Myoclonic dystonia 11

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 1, 2020
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001254167.5

Allele description [Variation Report for GRCh37/hg19 7q21.3(chr7:93516132-95668733)]

GRCh37/hg19 7q21.3(chr7:93516132-95668733)

Genes:

BET1:Bet1 golgi vesicular membrane trafficking protein [Gene - OMIM - HGNC]
CASD1:CAS1 domain containing 1 [Gene - OMIM - HGNC]
GNG11:G protein subunit gamma 11 [Gene - OMIM - HGNC]
GNGT1:G protein subunit gamma transducin 1 [Gene - OMIM - HGNC]
ASB4:ankyrin repeat and SOCS box containing 4 [Gene - OMIM - HGNC]
COL1A2:collagen type I alpha 2 chain [Gene - OMIM - HGNC]
DYNC1I1:dynein cytoplasmic 1 intermediate chain 1 [Gene - OMIM - HGNC]
PON1:paraoxonase 1 [Gene - OMIM - HGNC]
PON2:paraoxonase 2 [Gene - OMIM - HGNC]
PON3:paraoxonase 3 [Gene - OMIM - HGNC]
PEG10:paternally expressed 10 [Gene - OMIM - HGNC]
PPP1R9A:protein phosphatase 1 regulatory subunit 9A [Gene - OMIM - HGNC]
PDK4:pyruvate dehydrogenase kinase 4 [Gene - OMIM - HGNC]
SGCE:sarcoglycan epsilon [Gene - OMIM - HGNC]
TFPI2:tissue factor pathway inhibitor 2 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

7q21.3

Genomic location:

Chr7: 93516132 - 95668733 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 7q21.3(chr7:93516132-95668733)

HGVS:

NC_000007.13:g.(?_93516132)_(95668733_?)del

Observations:

Condition(s)

Name:: Myoclonic dystonia 11 (DYT11)
Synonyms:: Myoclonic dystonia; Dystonia 11; Dystonia, alcohol responsive; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008044; MedGen: C1834570; Orphanet: 36899; OMIM: 159900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001430124	Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	criteria provided, single submitter (Classification criteria August 2017)	Pathogenic (Jul 1, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001430124

Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

criteria provided, single submitter

(Classification criteria August 2017)

Pathogenic
(Jul 1, 2020)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München, SCV001430124.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	1	blood	not provided		1	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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