NC_000007.13:g.153649777_153985995del AND Intellectual disability, autosomal dominant 33

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 1, 2013
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:: RCV000169783.4

Allele description [Variation Report for NC_000007.13:g.153649777_153985995del]

NC_000007.13:g.153649777_153985995del

Genes:

LOC101929998:uncharacterized LOC101929998 [Gene]
DPP6:dipeptidyl peptidase like 6 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

7q36.2

Genomic location:

Preferred name:

NC_000007.13:g.153649777_153985995del

HGVS:

NC_000007.14:g.153952692_154288910del
NC_000007.13:g.153649777_153985995del

Note:

336-kb genomic deletion in gene DPP6.

Nucleotide change:

336-KB DEL

Links:

dbVar: nssv7487180; dbVar: nsv1197556; OMIM: 126141.0003

Condition(s)

Name:: Intellectual disability, autosomal dominant 33 (MRD33)
Synonyms:: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 33
Identifiers:: MONDO: MONDO:0014580; MedGen: C4225375; OMIM: 616311

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000221748	OMIM	no assertion criteria provided	Pathogenic (Sep 1, 2013)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000221748

OMIM

no assertion criteria provided

Pathogenic
(Sep 1, 2013)

germline

literature only

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
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Loss-of-function variation in the DPP6 gene is associated with autosomal dominant microcephaly and mental retardation.

Liao C, Fu F, Li R, Yang WQ, Liao HY, Yan JR, Li J, Li SY, Yang X, Li DZ.

Eur J Med Genet. 2013 Sep;56(9):484-9. doi: 10.1016/j.ejmg.2013.06.008. Epub 2013 Jul 5.

PubMed [citation]

PMID:: 23832105

Details of each submission

From OMIM, SCV000221748.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a 12-year-old boy (BY0712) with microcephaly and mental retardation (MRD33; 616311), Liao et al. (2013) identified a de novo heterozygous 336-kb deletion in the DPP6 gene (chr7.153,649,777-153,985,995, GRCh37).

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

Last Updated: Aug 5, 2023

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