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NC_000023.11:g.101345283_101347393del AND Deafness dystonia syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 3, 2021
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV002226787.3

Allele description [Variation Report for NC_000023.11:g.101345283_101347393del]

NC_000023.11:g.101345283_101347393del

Gene:
TIMM8A:translocase of inner mitochondrial membrane 8A [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xq22.1
Genomic location:
Preferred name:
NC_000023.11:g.101345283_101347393del
HGVS:
  • NC_000023.11:g.101345283_101347393del
  • NG_011734.1:g.6579_8689del
  • NC_000023.10:g.100600271_100602381del

Condition(s)

Name:
Deafness dystonia syndrome (MTS)
Synonyms:
Mohr-Tranebjaerg syndrome; Deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency; Deafness-dystonia-optic atrophy syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010578; MedGen: C0796074; Orphanet: 52368; OMIM: 304700

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001999954Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
no assertion criteria provided
Pathogenic
(Nov 3, 2021) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, SCV001999954.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 3, 2023