Description:
VICI SYNDROME; VICIS
ECTOPIC P-GRANULES AUTOPHAGY PROTEIN 5, C. ELEGANS, HOMOLOG OF; EPG5
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
PIGI Consented Sample |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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Ashkenazi Jewish
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Country of Origin
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USA
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Family Member
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3
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Family History
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N
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Relation to Proband
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father
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
EPG5 |
| Chromosomal Location |
18q12.3-q21.1 |
| Allelic Variant 1 |
; VICI SYNDROME; VICIS |
| Identified Mutation |
p.Q336R; c.1007A>G |
| Remarks |
Clinically unaffected; heterozygous for c.1007A>G variant in EPG5 gene on exon 2 as found by whole exome sequencing; fibro is GM27894; carrier father of affected son GM26249 (Lymph), GM26636 (Fibroblast) and GM27291 (stem cell); unaffected daughter is GM27895 (fibro). |
| Kane MS, Zhao J, Muskett J, Diplock A, Srivastava S, Hauser N, Deeken JF, Niederhuber JE, Smith WE, Vilboux T, Ebrahimi-Fakhari D, EPG5 Variants with Modest Functional Impact Result in an Ameliorated and Primarily Neurological Phenotype in a 35-Year-Old Patient with Vici Syndrome Neuropediatrics50:257-261 2019 |
| PubMed ID: 31226715 |
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