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GRCh37/hg19 17p13.3(chr17:525-1464281) AND Miller Dieker syndrome

Germline classification:
Pathogenic (1 submission)
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:
RCV002280706.1

Allele description [Variation Report for GRCh37/hg19 17p13.3(chr17:525-1464281)]

GRCh37/hg19 17p13.3(chr17:525-1464281)

Genes:
  • ABR:ABR activator of RhoGEF and GTPase [Gene - OMIM - HGNC]
  • CRK:CRK proto-oncogene, adaptor protein [Gene - OMIM - HGNC]
  • TLCD3A:TLC domain containing 3A [Gene - OMIM - HGNC]
  • VPS53:VPS53 subunit of GARP complex [Gene - OMIM - HGNC]
  • BHLHA9:basic helix-loop-helix family member a9 [Gene - OMIM - HGNC]
  • DOC2B:double C2 domain beta [Gene - OMIM - HGNC]
  • GEMIN4:gem nuclear organelle associated protein 4 [Gene - OMIM - HGNC]
  • GLOD4:glyoxalase domain containing 4 [Gene - HGNC]
  • INPP5K:inositol polyphosphate-5-phosphatase K [Gene - OMIM - HGNC]
  • LIAT1:ligand of ATE1 [Gene - HGNC]
  • MRM3:mitochondrial rRNA methyltransferase 3 [Gene - OMIM - HGNC]
  • MYO1C:myosin IC [Gene - OMIM - HGNC]
  • NXN:nucleoredoxin [Gene - OMIM - HGNC]
  • PITPNA:phosphatidylinositol transfer protein alpha [Gene - OMIM - HGNC]
  • RPH3AL:rabphilin 3A like (without C2 domains) [Gene - OMIM - HGNC]
  • RFLNB:refilin B [Gene - OMIM - HGNC]
  • TRARG1:trafficking regulator of GLUT4 (SLC2A4) 1 [Gene - OMIM - HGNC]
  • TIMM22:translocase of inner mitochondrial membrane 22 [Gene - OMIM - HGNC]
  • YWHAE:tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
17p13.3
Genomic location:
Chr17: 525 - 1464281 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 17p13.3(chr17:525-1464281)

Condition(s)

Name:
Miller Dieker syndrome (MDLS)
Synonyms:
Lissencephaly Syndrome, Miller-Dieker
Identifiers:
MONDO: MONDO:0009532; MedGen: C0265219; Orphanet: 531; OMIM: 247200

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002568970Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
no assertion criteria provided
Pathogenicunknownclinical testing

Summary from all submissions

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

Details of each submission

From Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital, SCV002568970.1

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

Last Updated: Oct 14, 2023