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GRCh37/hg19 1p36.13-36.12(chr1:16785250-23491592)x1 AND 1p36.1 deletion syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 10, 2021
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:
RCV001614471.2

Allele description [Variation Report for GRCh37/hg19 1p36.13-36.12(chr1:16785250-23491592)x1]

GRCh37/hg19 1p36.13-36.12(chr1:16785250-23491592)x1

Genes:
  • HTR6:5-hydroxytryptamine receptor 6 [Gene - OMIM - HGNC]
  • ATP13A2:ATPase cation transporting 13A2 [Gene - OMIM - HGNC]
  • EPHA8:EPH receptor A8 [Gene - OMIM - HGNC]
  • EPHB2:EPH receptor B2 [Gene - OMIM - HGNC]
  • EMC1:ER membrane protein complex subunit 1 [Gene - OMIM - HGNC]
  • MICOS10-NBL1:MICOS10-NBL1 readthrough [Gene - HGNC]
  • MRTO4:MRT4 homolog, ribosome maturation factor [Gene - HGNC]
  • NBL1:NBL1, DAN family BMP antagonist [Gene - OMIM - HGNC]
  • NBPF1:NBPF member 1 [Gene - OMIM - HGNC]
  • NBPF3:NBPF member 3 [Gene - OMIM - HGNC]
  • NECAP2:NECAP endocytosis associated 2 [Gene - OMIM - HGNC]
  • OTUD3:OTU deubiquitinase 3 [Gene - OMIM - HGNC]
  • PINK1:PTEN induced kinase 1 [Gene - OMIM - HGNC]
  • RAP1GAP:RAP1 GTPase activating protein [Gene - OMIM - HGNC]
  • RNU1-4:RNA, U1 small nuclear 4 [Gene - OMIM - HGNC]
  • ARHGEF10L:Rho guanine nucleotide exchange factor 10 like [Gene - OMIM - HGNC]
  • SH2D5:SH2 domain containing 5 [Gene - HGNC]
  • UBXN10:UBX domain protein 10 [Gene - OMIM - HGNC]
  • WNT4:Wnt family member 4 [Gene - OMIM - HGNC]
  • ACTL8:actin like 8 [Gene - HGNC]
  • ALDH4A1:aldehyde dehydrogenase 4 family member A1 [Gene - OMIM - HGNC]
  • AKR7L:aldo-keto reductase family 7 like (gene/pseudogene) [Gene - OMIM - HGNC]
  • AKR7A2:aldo-keto reductase family 7 member A2 [Gene - OMIM - HGNC]
  • AKR7A3:aldo-keto reductase family 7 member A3 [Gene - OMIM - HGNC]
  • ALPL:alkaline phosphatase, biomineralization associated [Gene - OMIM - HGNC]
  • CAMK2N1:calcium/calmodulin dependent protein kinase II inhibitor 1 [Gene - OMIM - HGNC]
  • CAPZB:capping actin protein of muscle Z-line subunit beta [Gene - OMIM - HGNC]
  • CDC42:cell division cycle 42 [Gene - OMIM - HGNC]
  • CELA3A:chymotrypsin like elastase 3A [Gene - OMIM - HGNC]
  • CELA3B:chymotrypsin like elastase 3B [Gene - OMIM - HGNC]
  • CROCC:ciliary rootlet coiled-coil, rootletin [Gene - OMIM - HGNC]
  • C1QA:complement C1q A chain [Gene - OMIM - HGNC]
  • C1QB:complement C1q B chain [Gene - OMIM - HGNC]
  • C1QC:complement C1q C chain [Gene - OMIM - HGNC]
  • CDA:cytidine deaminase [Gene - OMIM - HGNC]
  • DDOST:dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit [Gene - OMIM - HGNC]
  • ECE1:endothelin converting enzyme 1 [Gene - OMIM - HGNC]
  • EIF4G3:eukaryotic translation initiation factor 4 gamma 3 [Gene - OMIM - HGNC]
  • FAM43B:family with sequence similarity 43 member B [Gene - HGNC]
  • HSPG2:heparan sulfate proteoglycan 2 [Gene - OMIM - HGNC]
  • HP1BP3:heterochromatin protein 1 binding protein 3 [Gene - OMIM - HGNC]
  • IGSF21:immunoglobin superfamily member 21 [Gene - HGNC]
  • IFFO2:intermediate filament family orphan 2 [Gene - HGNC]
  • KLHDC7A:kelch domain containing 7A [Gene - HGNC]
  • KIF17:kinesin family member 17 [Gene - OMIM - HGNC]
  • LACTBL1:lactamase beta like 1 [Gene - HGNC]
  • LUZP1:leucine zipper protein 1 [Gene - OMIM - HGNC]
  • LINC01783:long intergenic non-protein coding RNA 1783 [Gene - HGNC]
  • LDLRAD2:low density lipoprotein receptor class A domain containing 2 [Gene - HGNC]
  • KDM1A:lysine demethylase 1A [Gene - OMIM - HGNC]
  • MFAP2:microfibril associated protein 2 [Gene - OMIM - HGNC]
  • MUL1:mitochondrial E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]
  • MICOS10:mitochondrial contact site and cristae organizing system subunit 10 [Gene - OMIM - HGNC]
  • PAX7:paired box 7 [Gene - OMIM - HGNC]
  • PADI1:peptidyl arginine deiminase 1 [Gene - OMIM - HGNC]
  • PADI2:peptidyl arginine deiminase 2 [Gene - OMIM - HGNC]
  • PADI3:peptidyl arginine deiminase 3 [Gene - OMIM - HGNC]
  • PADI4:peptidyl arginine deiminase 4 [Gene - OMIM - HGNC]
  • PADI6:peptidyl arginine deiminase 6 [Gene - OMIM - HGNC]
  • PLA2G2A:phospholipase A2 group IIA [Gene - OMIM - HGNC]
  • PLA2G2C:phospholipase A2 group IIC [Gene - HGNC]
  • PLA2G2D:phospholipase A2 group IID [Gene - OMIM - HGNC]
  • PLA2G2E:phospholipase A2 group IIE [Gene - OMIM - HGNC]
  • PLA2G2F:phospholipase A2 group IIF [Gene - OMIM - HGNC]
  • PLA2G5:phospholipase A2 group V [Gene - OMIM - HGNC]
  • RCC2:regulator of chromosome condensation 2 [Gene - OMIM - HGNC]
  • RNF186:ring finger protein 186 [Gene - OMIM - HGNC]
  • SLC66A1:solute carrier family 66 member 1 [Gene - OMIM - HGNC]
  • SDHB:succinate dehydrogenase complex iron sulfur subunit B [Gene - OMIM - HGNC]
  • TRQ-CTG14-1:tRNA-Gln (anticodon CTG) 14-1 [Gene - HGNC]
  • TRE-TTC3-1:tRNA-Glu (anticodon TTC) 3-1 [Gene - OMIM - HGNC]
  • TRG-CCC1-1:tRNA-Gly (anticodon CCC) 1-1 [Gene - OMIM - HGNC]
  • TAS1R2:taste 1 receptor member 2 [Gene - OMIM - HGNC]
  • TEX46:testis expressed 46 [Gene - HGNC]
  • TMCO4:transmembrane and coiled-coil domains 4 [Gene - HGNC]
  • UBR4:ubiquitin protein ligase E3 component n-recognin 4 [Gene - OMIM - HGNC]
  • USP48:ubiquitin specific peptidase 48 [Gene - OMIM - HGNC]
  • VWA5B1:von Willebrand factor A domain containing 5B1 [Gene - HGNC]
  • ZBTB40:zinc finger and BTB domain containing 40 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
1p36.13-36.12
Genomic location:
Chr1: 16785250 - 23491592 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 1p36.13-36.12(chr1:16785250-23491592)x1
HGVS:
NC_000001.10:g.(?_16785250)_(23491592_?)del
Observations:
1

Condition(s)

Name:
1p36.1 deletion syndrome
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001815865Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ
no assertion criteria provided
Pathogenic
(May 10, 2021) 		de novoclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).

Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL.

Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6. Erratum in: Genet Med. 2021 Nov;23(11):2230. doi: 10.1038/s41436-021-01150-9.

PubMed [citation]
PMID:
31690835
PMCID:
PMC7313390

A new 1p36.13-1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis.

Aagaard Nolting L, Brasch-Andersen C, Cox H, Kanani F, Parker M, Fry AE, Loddo S, Novelli A, Dentici ML, Joss S, Jørgensen JP, Fagerberg CR.

Clin Genet. 2020 Jun;97(6):927-932. doi: 10.1111/cge.13739. Epub 2020 Apr 1.

PubMed [citation]
PMID:
32170730

Details of each submission

From Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ, SCV001815865.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 1, 2023