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NM_001323289.2(CDKL5):c.2277-2A>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:
RCV000170019.1

Allele description [Variation Report for NM_001323289.2(CDKL5):c.2277-2A>G]

NM_001323289.2(CDKL5):c.2277-2A>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.2277-2A>G
HGVS:
  • NC_000023.11:g.18619865A>G
  • NG_008475.1:g.199261A>G
  • NM_001037343.2:c.2277-2A>G
  • NM_001323289.2:c.2277-2A>GMANE SELECT
  • NM_003159.3:c.2277-2A>G
  • NC_000023.10:g.18637985A>G
  • NM_003159.2:c.2277-2A>G
Links:
RettBASE (CDKL5): 142; dbSNP: rs786204979
NCBI 1000 Genomes Browser:
rs786204979
Molecular consequence:
  • NM_001037343.2:c.2277-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001323289.2:c.2277-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_003159.3:c.2277-2A>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
SCV000222326RettBASE
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

The neuropathological consequences of CDKL5 mutation.

Paine SM, Munot P, Carmichael J, Das K, Weber MA, Prabhakar P, Jacques TS.

Neuropathol Appl Neurobiol. 2012 Dec;38(7):744-7. doi: 10.1111/j.1365-2990.2012.01292.x. No abstract available.

PubMed [citation]
PMID:
22812903

Details of each submission

From RettBASE, SCV000222326.1

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

Description

"Not Rett syndrome - infantile-onset seizure"

PubMed [ID: 22812903]

Description

Disrupts splice site but effect on transcript uncertain

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

Last Updated: Aug 5, 2023