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NM_001323289.2(CDKL5):c.506_507del (p.Thr169fs) AND Developmental and epileptic encephalopathy, 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 13, 2014
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:
RCV000170047.1

Allele description [Variation Report for NM_001323289.2(CDKL5):c.506_507del (p.Thr169fs)]

NM_001323289.2(CDKL5):c.506_507del (p.Thr169fs)

Gene:
CDKL5:cyclin dependent kinase like 5 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
Xp22.13
Genomic location:
Preferred name:
NM_001323289.2(CDKL5):c.506_507del (p.Thr169fs)
Other names:
NM_001323289.2(CDKL5):c.506_507del; p.Thr169fs
HGVS:
  • NC_000023.11:g.18584303CA[1]
  • NG_008475.1:g.163699CA[1]
  • NM_001037343.2:c.506_507del
  • NM_001323289.2:c.506_507delMANE SELECT
  • NM_003159.3:c.506_507del
  • NP_001032420.1:p.Thr169fs
  • NP_001310218.1:p.Thr169fs
  • NP_003150.1:p.Thr169fs
  • NC_000023.10:g.18602422_18602423del
  • NC_000023.10:g.18602423CA[1]
  • NM_003159.2:c.506_507delCA
Protein change:
T169fs
Links:
RettBASE (CDKL5): 172; dbSNP: rs786204987
NCBI 1000 Genomes Browser:
rs786204987
Molecular consequence:
  • NM_001037343.2:c.506_507del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323289.2:c.506_507del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_003159.3:c.506_507del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Developmental and epileptic encephalopathy, 2 (DEE2)
Synonyms:
INFANTILE SPASM SYNDROME, X-LINKED 2; Early infantile epileptic encephalopathy 2
Identifiers:
MONDO: MONDO:0010396; MedGen: C4750718; Orphanet: 1934; Orphanet: 3451; OMIM: 300672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000222355RettBASE
no assertion criteria provided
Pathogenic
(Mar 13, 2014) 		de novocuration

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot provided1not providedcuration

Citations

PubMed

Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: identification of novel mutations.

Raymond L, Diebold B, Leroux C, Maurey H, Drouin-Garraud V, Delahaye A, Dulac O, Metreau J, Melikishvili G, Toutain A, Rivier F, Bahi-Buisson N, Bienvenu T.

Gene. 2013 Jan 1;512(1):70-5. doi: 10.1016/j.gene.2012.09.056. Epub 2012 Oct 11.

PubMed [citation]
PMID:
23064044

Details of each submission

From RettBASE, SCV000222355.1

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

Description

"Not Rett syndrome - early-onset seizures"

PubMed [ID: 23064044]

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyes1not providednot provided1not providednot providednot provided

Last Updated: Oct 26, 2024