GRCh37/hg19 15q11.2-13.1(chr15:23683783-28530182) AND multiple conditions

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 1, 2018
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000767725.1

Allele description [Variation Report for GRCh37/hg19 15q11.2-13.1(chr15:23683783-28530182)]

GRCh37/hg19 15q11.2-13.1(chr15:23683783-28530182)

Genes:

ATP10A:ATPase phospholipid transporting 10A (putative) [Gene - OMIM - HGNC]
HERC2:HECT and RLD domain containing E3 ubiquitin protein ligase 2 [Gene - OMIM - HGNC]
MAGEL2:MAGE family member L2 [Gene - OMIM - HGNC]
OCA2:OCA2 melanosomal transmembrane protein [Gene - OMIM - HGNC]
PWAR1:Prader Willi/Angelman region RNA 1 [Gene - OMIM - HGNC]
PWAR4:Prader Willi/Angelman region RNA 4 [Gene - HGNC]
PWAR5:Prader Willi/Angelman region RNA 5 [Gene - OMIM - HGNC]
PWAR6:Prader Willi/Angelman region RNA 6 [Gene - HGNC]
PWARSN:Prader Willi/Angelman region RNA, SNRPN neighbor [Gene - HGNC]
PWRN1:Prader-Willi region non-protein coding RNA 1 [Gene - OMIM - HGNC]
PWRN2:Prader-Willi region non-protein coding RNA 2 [Gene - OMIM - HGNC]
SNURF:SNRPN upstream open reading frame [Gene - HGNC]
GABRA5:gamma-aminobutyric acid type A receptor subunit alpha5 [Gene - OMIM - HGNC]
GABRB3:gamma-aminobutyric acid type A receptor subunit beta3 [Gene - OMIM - HGNC]
GABRG3:gamma-aminobutyric acid type A receptor subunit gamma3 [Gene - OMIM - HGNC]
GOLGA6L2:golgin A6 family like 2 [Gene - HGNC]
IPW:imprinted in Prader-Willi syndrome [Gene - OMIM - HGNC]
MKRN3:makorin ring finger protein 3 [Gene - OMIM - HGNC]
NDN:necdin, MAGE family member [Gene - OMIM - HGNC]
NPAP1:nuclear pore associated protein 1 [Gene - OMIM - HGNC]
SNRPN:small nuclear ribonucleoprotein polypeptide N [Gene - OMIM - HGNC]
SNORD115-1:small nucleolar RNA, C/D box 115-1 [Gene - OMIM - HGNC]
SNORD116-1:small nucleolar RNA, C/D box 116-1 [Gene - OMIM - HGNC]
UBE3A:ubiquitin protein ligase E3A [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

15q11.2-13.1

Genomic location:

Chr15: 23683783 - 28530182 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 15q11.2-13.1(chr15:23683783-28530182)

HGVS:

NC_000015.9:g.(?_23683783)_(28530182_?)del

Observations:

Condition(s)

Name:: Angelman syndrome (AS)
Synonyms:: HAPPY PUPPET SYNDROME; Happy puppet syndrome (formerly)
Identifiers:: MONDO: MONDO:0007113; MedGen: C0162635; Orphanet: 72; OMIM: 105830

Name:: Prader-Willi syndrome (PWS)
Synonyms:: Prader Labhart Willi syndrome; Obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet
Identifiers:: MONDO: MONDO:0008300; MedGen: C0032897; Orphanet: 739; OMIM: 176270

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000898347	Baylor Genetics	criteria provided, single submitter (ACMG CNV Guidelines, 2011)	Pathogenic (Nov 1, 2018)	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

SCV000898347

Baylor Genetics

criteria provided, single submitter

(ACMG CNV Guidelines, 2011)

Pathogenic
(Nov 1, 2018)

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
not provided	de novo	yes	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.

Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST; Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee.

Genet Med. 2011 Jul;13(7):680-5. doi: 10.1097/GIM.0b013e3182217a3a.

PubMed [citation]

PMID:: 21681106

Details of each submission

From Baylor Genetics, SCV000898347.1

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

#	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	1	not provided

Last Updated: Apr 23, 2022

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