NM_001193466.2(KANSL1):c.540del (p.Lys180fs) AND Koolen-de Vries syndrome

Clinical significance:Pathogenic (Last evaluated: Dec 31, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000850564.1

Allele description [Variation Report for NM_001193466.2(KANSL1):c.540del (p.Lys180fs)]

NM_001193466.2(KANSL1):c.540del (p.Lys180fs)

Gene:
KANSL1:KAT8 regulatory NSL complex subunit 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_001193466.2(KANSL1):c.540del (p.Lys180fs)
HGVS:
  • NC_000017.11:g.46171607del
  • NG_032784.1:g.58771del
  • NM_001193465.1:c.540del
  • NM_001193466.2:c.540del
  • NM_015443.3:c.540del
  • NP_001180394.1:p.Lys180fs
  • NP_001180395.1:p.Lys180fs
  • NP_056258.1:p.Lys180fs
  • NC_000017.10:g.44248973del
  • NC_000017.10:g.44248973delT
Protein change:
K180fs
Links:
dbSNP: rs1597874008
NCBI 1000 Genomes Browser:
rs1597874008
Molecular consequence:
  • NM_001193465.1:c.540del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001193466.2:c.540del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_015443.3:c.540del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Koolen-de Vries syndrome (KDVS)
Synonyms:
17q21.31 microdeletion syndrome; 17q21.31 deletion syndrome; Monosomy 17q21.31; See all synonyms [MedGen]
Identifiers:
MedGen: C1864871; Orphanet: 96169; OMIM: 610443

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000992779Baylor Geneticscriteria provided, single submitter
Pathogenic
(Dec 31, 2017)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients.

Zollino M, Marangi G, Ponzi E, Orteschi D, Ricciardi S, Lattante S, Murdolo M, Battaglia D, Contaldo I, Mercuri E, Stefanini MC, Caumes R, Edery P, Rossi M, Piccione M, Corsello G, Della Monica M, Scarano F, Priolo M, Gentile M, Zampino G, Vijzelaar R, et al.

J Med Genet. 2015 Dec;52(12):804-14. doi: 10.1136/jmedgenet-2015-103184. Epub 2015 Sep 30.

PubMed [citation]
PMID:
26424144

10-year-old female with intragenic KANSL1 mutation, no KANSL1-related intellectual disability, and preserved verbal intelligence.

Keen C, Samango-Sprouse C, Dubbs H, Zackai EH.

Am J Med Genet A. 2017 Mar;173(3):762-765. doi: 10.1002/ajmg.a.38080.

PubMed [citation]
PMID:
28211987
See all PubMed Citations (3)

Details of each submission

From Baylor Genetics, SCV000992779.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 12, 2021

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