NC_000023.11:g.18419574_18504791del AND Developmental and epileptic encephalopathy, 2

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 7, 2020
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:: RCV001270626.2

Allele description [Variation Report for NC_000023.11:g.18419574_18504791del]

NC_000023.11:g.18419574_18504791del

Genes:: LOC130067999:ATAC-STARR-seq lymphoblastoid silent region 20685 [Gene]
LOC121853052:Sharpr-MPRA regulatory region 2020 [Gene]
CDKL5:cyclin dependent kinase like 5 [Gene - OMIM - HGNC]
Variant type:: Deletion
Cytogenetic location:: Xp22.13
Genomic location:: ChrX: 18419574 - 18504791 (on Assembly GRCh38)
Preferred name:: NC_000023.11:g.18419574_18504791del
HGVS:: NC_000023.11:g.18419574_18504791del
This HGVS expression did not pass validation
Observations:: 1

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001450925	Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (UDN)	no assertion criteria provided	Pathogenic (Feb 7, 2020)	de novo	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001450925

Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (UDN)

no assertion criteria provided

Pathogenic
(Feb 7, 2020)

de novo

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Causasians	de novo	yes	1	not provided	not provided	not provided	not provided	clinical 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 Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (UDN), SCV001450925.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Causasians	1	not provided	not provided	clinical testing	PubMed (1)

Description

This mosaic deletion was present in 24% of reads in a male patient.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Oct 14, 2023

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