NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp) AND Early infantile epileptic encephalopathy 2

Clinical significance:Likely pathogenic (Last evaluated: May 15, 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:
RCV000169915.2

Allele description [Variation Report for NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp)]

NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp)

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.532C>T (p.Arg178Trp)
Other names:
p.R178W:CGG>TGG
HGVS:
  • NC_000023.11:g.18584331C>T
  • NG_008475.1:g.163727C>T
  • NM_001037343.2:c.532C>T
  • NM_001323289.2:c.532C>TMANE SELECT
  • NM_003159.2:c.532C>T
  • NM_003159.3:c.532C>T
  • NP_001032420.1:p.Arg178Trp
  • NP_001310218.1:p.Arg178Trp
  • NP_003150.1:p.Arg178Trp
  • NP_003150.1:p.Arg178Trp
  • NC_000023.10:g.18602451C>T
  • p.(Arg178Trp)
Protein change:
R178W
Links:
RettBASE (CDKL5): 69; dbSNP: rs267608493
NCBI 1000 Genomes Browser:
rs267608493
Molecular consequence:
  • NM_001037343.2:c.532C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323289.2:c.532C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003159.2:c.532C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003159.3:c.532C>T - missense variant - [Sequence Ontology: SO:0001583]

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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000188387RettBASEno assertion criteria providedLikely pathogenic
(May 15, 2014)
de novocuration

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot provided1not providedcuration

Citations

PubMed

Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature.

Nemos C, Lambert L, Giuliano F, Doray B, Roubertie A, Goldenberg A, Delobel B, Layet V, N'guyen MA, Saunier A, Verneau F, Jonveaux P, Philippe C.

Clin Genet. 2009 Oct;76(4):357-71. doi: 10.1111/j.1399-0004.2009.01194.x. Review.

PubMed [citation]
PMID:
19793311

Details of each submission

From RettBASE, SCV000188387.2

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

Description

"Not Rett syndrome - early-onset encephalopathy"

Description

In silico prediction: SIFT = deleterious, MutationTaster = disease-causing, PolyPhen2 = probably damaging, AlignGVGD = benign (C0)

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

Last Updated: Nov 20, 2021

Support Center