Aliases & Classifications for 1q21.1 Recurrent Microdeletion

MalaCards integrated aliases for 1q21.1 Recurrent Microdeletion:

Name: 1q21.1 Recurrent Microdeletion 24 29 6

Characteristics:

GeneReviews:

24
Penetrance Little information is available regarding penetrance of the 1q21.1 recurrent microdeletion. similar to several other recurrent microdeletions (e.g., 16p11.2, 15q13.3), the 1q21.1 recurrent microdeletion can be inherited from a parent with minimally abnormal or completely normal clinical findings. in addition, several relatives of probands (e.g., sibs, cousins) with the same 1q21.1 microdeletion have a normal phenotype or only mild manifestations [christiansen et al 2004; shaffer et al 2006; brunetti-pierri et al 2008; mefford et al 2008; bernier et al 2015; authors, personal observation]. this suggests that the 1q21.1 recurrent microdeletion has reduced penetrance and variable expressivity.

Summaries for 1q21.1 Recurrent Microdeletion

MalaCards based summary : 1q21.1 Recurrent Microdeletion is related to attention deficit-hyperactivity disorder and chromosome 1q21.1 deletion syndrome, 1.35-mb. An important gene associated with 1q21.1 Recurrent Microdeletion is GJA5 (Gap Junction Protein Alpha 5), and among its related pathways/superpathways are Development Slit-Robo signaling and Myometrial Relaxation and Contraction Pathways. Affiliated tissues include heart, kidney and eye, and related phenotypes are intellectual disability and microcephaly

GeneReviews: NBK52787

Related Diseases for 1q21.1 Recurrent Microdeletion

Diseases related to 1q21.1 Recurrent Microdeletion via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 attention deficit-hyperactivity disorder 10.1
2 chromosome 1q21.1 deletion syndrome, 1.35-mb 10.1
3 alacrima, achalasia, and mental retardation syndrome 10.1
4 autism spectrum disorder 10.1
5 microcephaly 10.1
6 atrial fibrillation, familial, 11 9.4 LOC102723321 GJA5
7 atrial standstill 9.4 LOC102723321 GJA5
8 atrial standstill 1 9.3 LOC102723321 GJA5
9 familial atrial fibrillation 9.1 LOC102723321 GJA5

Graphical network of the top 20 diseases related to 1q21.1 Recurrent Microdeletion:



Diseases related to 1q21.1 Recurrent Microdeletion

Symptoms & Phenotypes for 1q21.1 Recurrent Microdeletion

Human phenotypes related to 1q21.1 Recurrent Microdeletion:

32
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 microcephaly 32 HP:0000252

Drugs & Therapeutics for 1q21.1 Recurrent Microdeletion

Search Clinical Trials , NIH Clinical Center for 1q21.1 Recurrent Microdeletion

Genetic Tests for 1q21.1 Recurrent Microdeletion

Genetic tests related to 1q21.1 Recurrent Microdeletion:

# Genetic test Affiliating Genes
1 1q21.1 Recurrent Microdeletion 29 GJA5 GJA8

Anatomical Context for 1q21.1 Recurrent Microdeletion

MalaCards organs/tissues related to 1q21.1 Recurrent Microdeletion:

41
Heart, Kidney, Eye

Publications for 1q21.1 Recurrent Microdeletion

Articles related to 1q21.1 Recurrent Microdeletion:

(show all 23)
# Title Authors PMID Year
1
Mutation analysis of the genes associated with anterior segment dysgenesis, microcornea and microphthalmia in 257 patients with glaucoma. 4
26310487 2015
2
Concurrent exome-targeted next-generation sequencing and single nucleotide polymorphism array to identify the causative genetic aberrations of isolated Mayer-Rokitansky-Küster-Hauser syndrome. 4
25924657 2015
3
Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGD associated with inherited cataract. 4
25403472 2014
4
Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1. 4
24281366 2014
5
Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract. 4
24429398 2014
6
Analysis of copy number variations at 15 schizophrenia-associated loci. 4
24311552 2014
7
De novo mutations in histone-modifying genes in congenital heart disease. 4
23665959 2013
8
Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: rare association with pulmonary valve stenosis. 4
23270675 2013
9
A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot. 4
22713807 2013
10
Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls. 4
22199024 2012
11
Understanding the impact of 1q21.1 copy number variant. 4
21824431 2011
12
Clavicular pseudoarthrosis, anomalous coronary artery and extra crease of the fifth finger-previously unreported features in individuals with class II 1q21.1 microdeletions. 4
20573555 2010
13
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. 4
19029900 2008
14
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. 4
18784092 2008
15
Rare chromosomal deletions and duplications increase risk of schizophrenia. 4
18668038 2008
16
Large recurrent microdeletions associated with schizophrenia. 4
18668039 2008
17
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. 4
18369103 2008
18
Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases. 4
16860135 2006
19
Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation. 4
16790700 2006
20
Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. 4
16444292 2005
21
Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease. 4
15117819 2004
22
Segmental duplications: an 'expanding' role in genomic instability and disease. 4
11584295 2001
23
1q21.1 Recurrent Microdeletion 38
21348049 2011

Variations for 1q21.1 Recurrent Microdeletion

ClinVar genetic disease variations for 1q21.1 Recurrent Microdeletion:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ACP6 ; BCL9 ; CHD1L ; FMO5 ; GJA5 ; GJA8 ; GPR89B ; PRKAB2 deletion Pathogenic 1:146560564-147416122 :0-0
2 ACP6 ; BCL9 ; CHD1L ; FMO5 ; GJA5 ; GJA8 ; GPR89B ; PRKAB2 GRCh37/hg19 1q21.1-21.2(chr1: 146618988-147825678) copy number loss Pathogenic 1:146618988-147825678 :0-0
3 ACP6 ; BCL9 ; CHD1L ; FMO5 ; GJA5 ; GJA8 ; GPR89B ; PRKAB2 GRCh37/hg19 1q21.1-21.2(chr1: 146560564-147416122) copy number loss Pathogenic 1:146560564-147416122 :0-0
4 GJA5 NM_005266.6(GJA5): c.995G> A (p.Arg332His) single nucleotide variant Uncertain significance rs116551187 1:147230352-147230352 1:147758244-147758244

Expression for 1q21.1 Recurrent Microdeletion

Search GEO for disease gene expression data for 1q21.1 Recurrent Microdeletion.

Pathways for 1q21.1 Recurrent Microdeletion

GO Terms for 1q21.1 Recurrent Microdeletion

Cellular components related to 1q21.1 Recurrent Microdeletion according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gap junction GO:0005921 8.96 GJA8 GJA5
2 connexin complex GO:0005922 8.62 GJA8 GJA5

Biological processes related to 1q21.1 Recurrent Microdeletion according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 8.96 GJA8 GJA5
2 cell communication GO:0007154 8.62 GJA8 GJA5

Molecular functions related to 1q21.1 Recurrent Microdeletion according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gap junction channel activity GO:0005243 8.62 GJA8 GJA5

Sources for 1q21.1 Recurrent Microdeletion

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
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73 UMLS via Orphanet
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