NM_001323289.2(CDKL5):c.183del (p.Met63fs) 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:
RCV000133332.3

Allele description [Variation Report for NM_001323289.2(CDKL5):c.183del (p.Met63fs)]

NM_001323289.2(CDKL5):c.183del (p.Met63fs)

Gene:
CDKL5:cyclin dependent kinase like 5 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xp22.13
Genomic location:
Preferred name:
NM_001323289.2(CDKL5):c.183del (p.Met63fs)
HGVS:
  • NC_000023.11:g.18575391del
  • NG_008475.1:g.154787del
  • NM_001037343.1:c.183del
  • NM_001323289.2:c.183delMANE SELECT
  • NM_003159.2:c.183del
  • NP_001032420.1:p.Met63fs
  • NP_001310218.1:p.Met63fs
  • NP_003150.1:p.Met63fs
  • NC_000023.10:g.18593511del
  • NM_003159.2:c.183delT
Protein change:
M63fs
Links:
RettBASE (CDKL5): 1; RettBASE (CDKL5): 1C; dbSNP: rs62643608
NCBI 1000 Genomes Browser:
rs62643608
Molecular consequence:
  • NM_001037343.1:c.183del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323289.2:c.183del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_003159.2:c.183del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000188341RettBASEno assertion criteria providedPathogenic
(Mar 13, 2014)
unknowncuration

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot provided1not providedcuration

Citations

PubMed

Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

Weaving LS, Christodoulou J, Williamson SL, Friend KL, McKenzie OL, Archer H, Evans J, Clarke A, Pelka GJ, Tam PP, Watson C, Lahooti H, Ellaway CJ, Bennetts B, Leonard H, G├ęcz J.

Am J Hum Genet. 2004 Dec;75(6):1079-93. Epub 2004 Oct 18.

PubMed [citation]
PMID:
15492925
PMCID:
PMC1182143

Details of each submission

From RettBASE, SCV000188341.2

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

Description

"Not Rett syndrome - sporadic mental retardation"

Description

Frameshift mutation in exon 5, leads to a truncated polypeptide with 74 amino acid residues

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

Last Updated: Sep 29, 2021

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