NM_001323289.2(CDKL5):c.2452_2459del (p.Pro818fs) AND Early infantile epileptic encephalopathy 2

Clinical significance:Pathogenic (Last evaluated: Mar 5, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000662019.2

Allele description [Variation Report for NM_001323289.2(CDKL5):c.2452_2459del (p.Pro818fs)]

NM_001323289.2(CDKL5):c.2452_2459del (p.Pro818fs)

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.2452_2459del (p.Pro818fs)
HGVS:
  • NC_000023.11:g.18625203_18625210del
  • NG_008475.1:g.204599_204606del
  • NM_001037343.2:c.2452_2459del
  • NM_001323289.2:c.2452_2459delMANE SELECT
  • NM_003159.3:c.2452_2459del
  • NP_001032420.1:p.Pro818fs
  • NP_001310218.1:p.Pro818fs
  • NP_003150.1:p.Pro818fs
  • NC_000023.10:g.18643323_18643330del
  • NM_001037343.1:c.2450_2457del
Protein change:
P818fs
Links:
dbSNP: rs1555954737
NCBI 1000 Genomes Browser:
rs1555954737
Molecular consequence:
  • NM_001037343.2:c.2452_2459del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323289.2:c.2452_2459del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_003159.3:c.2452_2459del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

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
SCV000784351Genomic Research Center,Shahid Beheshti University of Medical Sciencescriteria provided, single submitter
Pathogenic
(Mar 5, 2018)
inheritedclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genomic Research Center,Shahid Beheshti University of Medical Sciences, SCV000784351.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 27, 2021

Support Center