MCID: 1Q2003
MIFTS: 11

1q21.1 Recurrent Microdeletion

Aliases & Classifications for 1q21.1 Recurrent Microdeletion

MalaCards integrated aliases for 1q21.1 Recurrent Microdeletion:

Name: 1q21.1 Recurrent Microdeletion 25 30 6

Characteristics:

GeneReviews:

25
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...

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Summaries for 1q21.1 Recurrent Microdeletion

MalaCards based summary : 1q21.1 Recurrent Microdeletion An important gene associated with 1q21.1 Recurrent Microdeletion is GJA5 (Gap Junction Protein Alpha 5), and among its related pathways/superpathways are Vesicle-mediated transport and G-Beta Gamma Signaling. Related phenotypes are intellectual disability and microcephaly

GeneReviews: NBK52787

Related Diseases for 1q21.1 Recurrent Microdeletion

Symptoms & Phenotypes for 1q21.1 Recurrent Microdeletion

Human phenotypes related to 1q21.1 Recurrent Microdeletion:

33
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 microcephaly 33 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 30 GJA5 GJA8

Anatomical Context for 1q21.1 Recurrent Microdeletion

Publications for 1q21.1 Recurrent Microdeletion

Variations for 1q21.1 Recurrent Microdeletion

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GJA5 NM_005266.6(GJA5): c.995G> A (p.Arg332His) single nucleotide variant Uncertain significance rs116551187 GRCh37 Chromosome 1, 147230352: 147230352
2 GJA5 NM_005266.6(GJA5): c.995G> A (p.Arg332His) single nucleotide variant Uncertain significance rs116551187 GRCh38 Chromosome 1, 147758244: 147758244
3 ACP6; BCL9; CHD1L; FMO5; GJA5; GJA8; GPR89B; PRKAB2 NC_000001.10: g.(146560564_?)_(?_147416122)del deletion Pathogenic GRCh37 Chromosome 1, 146560564: 147416122
4 ACP6; BCL9; CHD1L; FMO5; GJA5; GJA8; GPR89B; PRKAB2 GRCh37/hg19 1q21.1-21.2(chr1: 146618988-147825678) copy number loss Pathogenic GRCh37 Chromosome 1, 146618988: 147825678
5 ACP6; BCL9; CHD1L; FMO5; GJA5; GJA8; GPR89B; PRKAB2 GRCh37/hg19 1q21.1-21.2(chr1: 146560564-147416122) copy number loss Pathogenic GRCh37 Chromosome 1, 146560564: 147416122

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 cell junction GO:0030054 9.16 GJA5 GJA8
2 gap junction GO:0005921 8.96 GJA5 GJA8
3 connexin complex GO:0005922 8.62 GJA5 GJA8

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 GJA5 GJA8
2 cell communication GO:0007154 8.62 GJA5 GJA8

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 GJA5 GJA8

Sources for 1q21.1 Recurrent Microdeletion

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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35 ICD10 via Orphanet
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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