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NM_001323289.2(CDKL5):c.978-2A>G 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:
RCV000170057.2

Allele description [Variation Report for NM_001323289.2(CDKL5):c.978-2A>G]

NM_001323289.2(CDKL5):c.978-2A>G

Gene:
CDKL5:cyclin dependent kinase like 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp22.13
Genomic location:
Preferred name:
NM_001323289.2(CDKL5):c.978-2A>G
HGVS:
  • NC_000023.11:g.18603900A>G
  • NG_008475.1:g.183296A>G
  • NM_001037343.2:c.978-2A>G
  • NM_001323289.2:c.978-2A>GMANE SELECT
  • NM_003159.3:c.978-2A>G
  • NC_000023.10:g.18622020A>G
  • NM_003159.2:c.978-2A>G
Links:
RettBASE (CDKL5): 31; dbSNP: rs267608553
NCBI 1000 Genomes Browser:
rs267608553
Molecular consequence:
  • NM_001037343.2:c.978-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001323289.2:c.978-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_003159.3:c.978-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

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
SCV000222366RettBASE
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

CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients.

Archer HL, Evans J, Edwards S, Colley J, Newbury-Ecob R, O'Callaghan F, Huyton M, O'Regan M, Tolmie J, Sampson J, Clarke A, Osborne J.

J Med Genet. 2006 Sep;43(9):729-34. Epub 2006 Apr 12.

PubMed [citation]
PMID:
16611748
PMCID:
PMC2564572

Details of each submission

From RettBASE, SCV000222366.1

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

Description

"Not Rett syndrome - epileptic encephalopathy"

PubMed [ID: 16611748]

Description

Predicted to cause exon 12 skipping

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

Last Updated: Oct 8, 2024