NM_003159.2(CDKL5):c.838_847delTTGGACCCAG (p.Asp281Thrfs) AND Atypical Rett syndrome

Clinical significance:Pathogenic (Last evaluated: Mar 13, 2014)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000133385.2

Allele description [Variation Report for NM_003159.2(CDKL5):c.838_847delTTGGACCCAG (p.Asp281Thrfs)]

NM_003159.2(CDKL5):c.838_847delTTGGACCCAG (p.Asp281Thrfs)

Gene:
CDKL5:cyclin dependent kinase like 5 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xp22.13
Genomic location:
Preferred name:
NM_003159.2(CDKL5):c.838_847delTTGGACCCAG (p.Asp281Thrfs)
HGVS:
  • NC_000023.11:g.18598474_18598483delTTGGACCCAG
  • NG_008475.1:g.177870_177879delTTGGACCCAG
  • NM_003159.2:c.838_847delTTGGACCCAG
  • NP_003150.1:p.Asp281Thrfs
  • NC_000023.10:g.18616594_18616603delTTGGACCCAG
  • NM_003159.2:c.838_847del10
Links:
RettBASE (CDKL5): 12; dbSNP: rs61750250
NCBI 1000 Genomes Browser:
rs61750250
Molecular consequence:
  • NM_003159.2:c.838_847delTTGGACCCAG - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Atypical Rett syndrome
Identifiers:
MedGen: C2748910

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000188400RettBASEno assertion criteria providedPathogenic
(Mar 13, 2014)
de novocuration

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot provided1not providedcuration

Citations

PubMed

CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome.

Mari F, Azimonti S, Bertani I, Bolognese F, Colombo E, Caselli R, Scala E, Longo I, Grosso S, Pescucci C, Ariani F, Hayek G, Balestri P, Bergo A, Badaracco G, Zappella M, Broccoli V, Renieri A, Kilstrup-Nielsen C, Landsberger N.

Hum Mol Genet. 2005 Jul 15;14(14):1935-46. Epub 2005 May 25.

PubMed [citation]
PMID:
15917271

Details of each submission

From RettBASE, SCV000188400.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedcuration PubMed (1)

Description

"Rett syndrome - early seizure"
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyes1not providednot provided1not providednot providednot provided

Last Updated: Jul 21, 2018