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NM_001323289.2(CDKL5):c.1784dup (p.Leu596fs) 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:
RCV000170011.1

Allele description [Variation Report for NM_001323289.2(CDKL5):c.1784dup (p.Leu596fs)]

NM_001323289.2(CDKL5):c.1784dup (p.Leu596fs)

Gene:
CDKL5:cyclin dependent kinase like 5 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
Xp22.13
Genomic location:
Preferred name:
NM_001323289.2(CDKL5):c.1784dup (p.Leu596fs)
Other names:
NM_001323289.2(CDKL5):c.1784dup; p.Leu596fs
HGVS:
  • NC_000023.11:g.18604708dup
  • NG_008475.1:g.184104dup
  • NM_001037343.2:c.1784dup
  • NM_001323289.2:c.1784dupMANE SELECT
  • NM_003159.3:c.1784dup
  • NP_001032420.1:p.Leu596fs
  • NP_001310218.1:p.Leu596fs
  • NP_003150.1:p.Leu596fs
  • NC_000023.10:g.18622828dup
  • NM_003159.2:c.1784dupG
Protein change:
L596fs
Links:
RettBASE (CDKL5): 152; dbSNP: rs786204974
NCBI 1000 Genomes Browser:
rs786204974
Molecular consequence:
  • NM_001037343.2:c.1784dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323289.2:c.1784dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_003159.3:c.1784dup - 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
SCV000222318RettBASE
no assertion criteria provided
Pathogenic
(Mar 13, 2014) 		unknowncuration

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot provided1not providedcuration

Citations

PubMed

Clinical phenotype of 5 females with a CDKL5 mutation.

Stalpers XL, Spruijt L, Yntema HG, Verrips A.

J Child Neurol. 2012 Jan;27(1):90-3. doi: 10.1177/0883073811413832. Epub 2011 Jul 15.

PubMed [citation]
PMID:
21765152

Details of each submission

From RettBASE, SCV000222318.1

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

Description

"Not Rett syndrome - early-onset epilepsy with severe intellectual disability"

PubMed [ID: 21765152]

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2024