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NM_001323289.2(CDKL5):c.58G>C (p.Gly20Arg) AND Developmental and epileptic encephalopathy, 2

Germline classification:
Likely 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:
RCV000133379.3

Allele description [Variation Report for NM_001323289.2(CDKL5):c.58G>C (p.Gly20Arg)]

NM_001323289.2(CDKL5):c.58G>C (p.Gly20Arg)

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.58G>C (p.Gly20Arg)
HGVS:
  • NC_000023.11:g.18507154G>C
  • NG_008475.1:g.86550G>C
  • NM_001037343.2:c.58G>C
  • NM_001323289.2:c.58G>CMANE SELECT
  • NM_003159.3:c.58G>C
  • NP_001032420.1:p.Gly20Arg
  • NP_001310218.1:p.Gly20Arg
  • NP_003150.1:p.Gly20Arg
  • NP_003150.1:p.Gly20Arg
  • NC_000023.10:g.18525274G>C
  • NM_003159.2:c.58G>C
Protein change:
G20R
Links:
RettBASE (CDKL5): 93; dbSNP: rs267608418
NCBI 1000 Genomes Browser:
rs267608418
Molecular consequence:
  • NM_001037343.2:c.58G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323289.2:c.58G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003159.3:c.58G>C - missense variant - [Sequence Ontology: SO:0001583]

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000188394RettBASE
no assertion criteria provided
Likely pathogenic
(Mar 13, 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

Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders.

White R, Ho G, Schmidt S, Scheffer IE, Fischer A, Yendle SC, Bienvenu T, Nectoux J, Ellaway CJ, Darmanian A, Tong X, Cloosterman D, Bennetts B, Kalra V, Fullston T, Gecz J, Cox TC, Christodoulou J.

Twin Res Hum Genet. 2010 Apr;13(2):168-78. doi: 10.1375/twin.13.2.168.

PubMed [citation]
PMID:
20397747

Details of each submission

From RettBASE, SCV000188394.2

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

Description

"Not Rett syndrome - epileptic 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: Feb 28, 2024