U.S. flag

An official website of the United States government

Single allele AND Potocki-Lupski 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:
RCV002280639.1

Allele description [Variation Report for Single allele]

Genes:
  • NT5M:5',3'-nucleotidase, mitochondrial [Gene - OMIM - HGNC]
  • ATPAF2:ATP synthase mitochondrial F1 complex assembly factor 2 [Gene - OMIM - HGNC]
  • COPS3:COP9 signalosome subunit 3 [Gene - OMIM - HGNC]
  • TNFRSF13B:TNF receptor superfamily member 13B [Gene - OMIM - HGNC]
  • CCDC144A:coiled-coil domain containing 144A [Gene - OMIM - HGNC]
  • DRC3:dynein regulatory complex subunit 3 [Gene - OMIM - HGNC]
  • FLCN:folliculin [Gene - OMIM - HGNC]
  • LRRC75A:leucine rich repeat containing 75A [Gene - HGNC]
  • MED9:mediator complex subunit 9 [Gene - OMIM - HGNC]
  • MIR33B:microRNA 33b [Gene - OMIM - HGNC]
  • MPRIP:myosin phosphatase Rho interacting protein [Gene - OMIM - HGNC]
  • PEMT:phosphatidylethanolamine N-methyltransferase [Gene - OMIM - HGNC]
  • PLD6:phospholipase D family member 6 [Gene - OMIM - HGNC]
  • RASD1:ras related dexamethasone induced 1 [Gene - OMIM - HGNC]
  • RAI1:retinoic acid induced 1 [Gene - OMIM - HGNC]
  • SREBF1:sterol regulatory element binding transcription factor 1 [Gene - OMIM - HGNC]
  • TOM1L2:target of myb1 like 2 membrane trafficking protein [Gene - OMIM - HGNC]
  • ZNF287:zinc finger protein 287 [Gene - HGNC]
  • ZNF624:zinc finger protein 624 [Gene - HGNC]
Variant type:
Complex
Cytogenetic location:
17p11.2
Genomic location:
Chr17: 16379813 - 17940963 (on Assembly GRCh37)

Condition(s)

Name:
Potocki-Lupski syndrome (PTLS)
Synonyms:
Chromosome 17, trisomy 17p11 2; Trisomy 17p11 2; Duplication 17p11 2; See all synonyms [MedGen]
Identifiers:
Gene: 100038247; MONDO: MONDO:0012574; MedGen: C2931246; OMIM: 610883

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002568904Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
no assertion criteria provided
Pathogenicunknownclinical testing

Help

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, SCV002568904.1

#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: Sep 3, 2022