GRCh37/hg19 1p36.32-36.23(chr1:2420003-8155935)x1 AND Chromosome 1p36 deletion syndrome

Germline classification:: not provided (1 submission)
Review status:: no classification 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:: RCV001535693.1

Allele description [Variation Report for GRCh37/hg19 1p36.32-36.23(chr1:2420003-8155935)x1]

GRCh37/hg19 1p36.32-36.23(chr1:2420003-8155935)x1

Genes:

DFFB:DNA fragmentation factor subunit beta [Gene - OMIM - HGNC]
DNAJC11:DnaJ heat shock protein family (Hsp40) member C11 [Gene - OMIM - HGNC]
ERRFI1:ERBB receptor feedback inhibitor 1 [Gene - OMIM - HGNC]
GPR153:G protein-coupled receptor 153 [Gene - OMIM - HGNC]
PHF13:PHD finger protein 13 [Gene - OMIM - HGNC]
PRDM16:PR/SET domain 16 [Gene - OMIM - HGNC]
PARK7:Parkinsonism associated deglycase [Gene - OMIM - HGNC]
ARHGEF16:Rho guanine nucleotide exchange factor 16 [Gene - OMIM - HGNC]
THAP3:THAP domain containing 3 [Gene - OMIM - HGNC]
TNFRSF14:TNF receptor superfamily member 14 [Gene - OMIM - HGNC]
TNFRSF25:TNF receptor superfamily member 25 [Gene - OMIM - HGNC]
TNFRSF9:TNF receptor superfamily member 9 [Gene - OMIM - HGNC]
WRAP73:WD repeat containing, antisense to TP73 [Gene - OMIM - HGNC]
ACTRT2:actin related protein T2 [Gene - OMIM - HGNC]
ACOT7:acyl-CoA thioesterase 7 [Gene - OMIM - HGNC]
AJAP1:adherens junctions associated protein 1 [Gene - OMIM - HGNC]
CAMTA1:calmodulin binding transcription activator 1 [Gene - OMIM - HGNC]
CEP104:centrosomal protein 104 [Gene - OMIM - HGNC]
CHD5:chromodomain helicase DNA binding protein 5 [Gene - OMIM - HGNC]
C1orf174:chromosome 1 open reading frame 174 [Gene - HGNC]
CCDC27:coiled-coil domain containing 27 [Gene - HGNC]
ESPN:espin [Gene - OMIM - HGNC]
HES2:hes family bHLH transcription factor 2 [Gene - OMIM - HGNC]
HES3:hes family bHLH transcription factor 3 [Gene - OMIM - HGNC]
HES5:hes family bHLH transcription factor 5 [Gene - OMIM - HGNC]
ICMT:isoprenylcysteine carboxyl methyltransferase [Gene - OMIM - HGNC]
KLHL21:kelch like family member 21 [Gene - OMIM - HGNC]
LRRC47:leucine rich repeat containing 47 [Gene - OMIM - HGNC]
MMEL1:membrane metalloendopeptidase like 1 [Gene - OMIM - HGNC]
MIR551A:microRNA 551a [Gene - OMIM - HGNC]
MEGF6:multiple EGF like domains 6 [Gene - OMIM - HGNC]
NPHP4:nephrocystin 4 [Gene - OMIM - HGNC]
NOL9:nucleolar protein 9 [Gene - OMIM - HGNC]
PANK4:pantothenate kinase 4 (inactive) [Gene - OMIM - HGNC]
PER3:period circadian regulator 3 [Gene - OMIM - HGNC]
PRXL2B:peroxiredoxin like 2B [Gene - HGNC]
PLCH2:phospholipase C eta 2 [Gene - OMIM - HGNC]
PLEKHG5:pleckstrin homology and RhoGEF domain containing G5 [Gene - OMIM - HGNC]
KCNAB2:potassium voltage-gated channel subfamily A regulatory beta subunit 2 [Gene - OMIM - HGNC]
RPL22:ribosomal protein L22 [Gene - OMIM - HGNC]
RNF207:ring finger protein 207 [Gene - OMIM - HGNC]
SMIM1:small integral membrane protein 1 (Vel blood group) [Gene - OMIM - HGNC]
TAS1R1:taste 1 receptor member 1 [Gene - OMIM - HGNC]
TTC34:tetratricopeptide repeat domain 34 [Gene - HGNC]
TPRG1L:tumor protein p63 regulated 1 like [Gene - OMIM - HGNC]
TP73:tumor protein p73 [Gene - OMIM - HGNC]
UTS2:urotensin 2 [Gene - OMIM - HGNC]
VAMP3:vesicle associated membrane protein 3 [Gene - OMIM - HGNC]
ZBTB48:zinc finger and BTB domain containing 48 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

1p36.32-36.23

Genomic location:

Chr1: 2420003 - 8155935 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 1p36.32-36.23(chr1:2420003-8155935)x1

HGVS:

NC_000001.10:g.(?_2420003)_(8155935_?)del

Condition(s)

Name:: Chromosome 1p36 deletion syndrome (1p36)
Synonyms:: 1p36 microdeletion syndrome; 1p36.33 deletion; Monosomy 1p36 syndrome
Identifiers:: MONDO: MONDO:0011929; MeSH: C535362; MedGen: C1842870; Orphanet: 1606; OMIM: 607872

Recent activity

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HpaII family restriction endonuclease [uncultured Parasutterella sp.]
HpaII family restriction endonuclease [uncultured Parasutterella sp.]
gi|2559526286|ref|WP_304855271.1|

Protein
peptidylprolyl isomerase [uncultured Parasutterella sp.]
peptidylprolyl isomerase [uncultured Parasutterella sp.]
gi|2559629063|ref|WP_304947274.1|

Protein
MFS transporter [uncultured Parasutterella sp.]
MFS transporter [uncultured Parasutterella sp.]
gi|2559527243|ref|WP_304856227.1|

Protein
zinc ribbon domain-containing protein [uncultured Parasutterella sp.]
zinc ribbon domain-containing protein [uncultured Parasutterella sp.]
gi|2788634206|ref|WP_370593667.1|

Protein
peptidylprolyl isomerase [Terrisporobacter petrolearius]
peptidylprolyl isomerase [Terrisporobacter petrolearius]
gi|2728322707|ref|WP_343345765.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001749771	GenomeConnect - Invitae Patient Insights Network	no classification provided	not provided	unknown	phenotyping only

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001749771

GenomeConnect - Invitae Patient Insights Network

no classification provided

not provided

unknown

phenotyping only

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	phenotyping only

Details of each submission

From GenomeConnect - Invitae Patient Insights Network, SCV001749771.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	phenotyping only	not provided

Description

Variant interpreted as Not Provided and reported on 09-15-2011 by Baylor. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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

Last Updated: Aug 5, 2023

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