NM_001323289.2(CDKL5):c.99+5G>A AND Early infantile epileptic encephalopathy 2

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:
RCV000170059.1

Allele description [Variation Report for NM_001323289.2(CDKL5):c.99+5G>A]

NM_001323289.2(CDKL5):c.99+5G>A

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.99+5G>A
Other names:
IVS3+5G>A
HGVS:
  • NC_000023.11:g.18510859G>A
  • NG_008475.1:g.90255G>A
  • NM_001037343.1:c.99+5G>A
  • NM_001323289.2:c.99+5G>AMANE SELECT
  • NM_003159.2:c.99+5G>A
  • NC_000023.10:g.18528979G>A
Links:
RettBASE (CDKL5): 89; dbSNP: rs587783131
NCBI 1000 Genomes Browser:
rs587783131
Molecular consequence:
  • NM_001037343.1:c.99+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001323289.2:c.99+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003159.2:c.99+5G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000222368RettBASEno assertion criteria providedPathogenic
(Mar 13, 2014)
unknown, de novocuration

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot provided1not providedcuration
not providedunknownyes1not providednot provided1not providedcuration

Citations

PubMed

Somatic mosaicism for a CDKL5 mutation as an epileptic encephalopathy in males.

Masliah-Plachon J, Auvin S, Nectoux J, Fichou Y, Chelly J, Bienvenu T.

Am J Med Genet A. 2010 Aug;152A(8):2110-1. doi: 10.1002/ajmg.a.33037. No abstract available.

PubMed [citation]
PMID:
20602487

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, SCV000222368.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedcuration PubMed (2)
2not provided1not providednot providedcuration PubMed (2)

Description

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

Description

Causes skipping of exon 3

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided
2de novoyes1not providednot provided1not providednot providednot provided

Last Updated: Feb 27, 2021

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