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...

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Summaries for 1q21.1 Recurrent Microdeletion

MalaCards based summary : 1q21.1 Recurrent Microdeletion is related to chromosome 1q21.1 deletion syndrome, 1.35-mb. An important gene associated with 1q21.1 Recurrent Microdeletion is GJA8 (Gap Junction Protein Alpha 8), and among its related pathways/superpathways are Vesicle-mediated transport and G-Beta Gamma Signaling. Related phenotypes are microcephaly and intellectual disability

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 chromosome 1q21.1 deletion syndrome, 1.35-mb 11.2

Symptoms & Phenotypes for 1q21.1 Recurrent Microdeletion

Human phenotypes related to 1q21.1 Recurrent Microdeletion:

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

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

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 ACP6; BCL9; CHD1L; FMO5; GJA5; GJA8; GPR89B; PRKAB2 NC_000001.10: g.(146560564_?)_(?_147416122)del deletion 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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