RERE Chromosome 1
Arginine-glutamic acid dipeptide repeats
Upload your DNA to see your personal genotypes for variants in RERE.
What This Gene Does
This gene encodes a member of the atrophin family of arginine-glutamic acid (RE) dipeptide repeat-containing proteins. The encoded protein co-localizes with a transcription factor in the nucleus, and its overexpression triggers apoptosis. A similar protein in mouse associates with histone deacetylase and is thought to function as a transcriptional co-repressor during embryonic development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"GATA zinc finger domain containing|Myb/SANT domain containing|Atrophins"
Locus Type
gene with protein product
Location
1p36.23
Ensembl
ENSG00000142599
Associated Conditions (11)
Inborn genetic diseases
Neurodevelopmental disorder with or without anomalies of the brain
eye
or heart
RERE-related disorder
Intellectual disability
Developmental disorder
Autism spectrum disorder
CHARGE syndrome
Neurodevelopmental disorder
Cerebral visual impairment and intellectual disability
Key Variants
RS1002074448
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1057518295
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
Health Risk
RS1178020687
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
Health Risk
RS1306272176
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1342761401
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1350374523
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS138193383
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1421433644
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS147116390
Conflicting classifications of pathogenicity
RERE-related disorder, Inborn genetic diseases, Neurodevelopmental disorder with or without anomalies of the brain
Health Risk
RS149900041
Conflicting classifications of pathogenicity
Health Risk
RS1557583707
Conflicting classifications of pathogenicity
Inborn genetic diseases, Neurodevelopmental disorder with or without anomalies of the brain, eye
Health Risk
RS1641387459
Conflicting classifications of pathogenicity
Inborn genetic diseases, RERE-related disorder, Inborn genetic diseases
Health Risk
All Variants (90)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1002074448 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1057518295 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart |
| RS1178020687 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart |
| RS1306272176 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1342761401 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1350374523 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS138193383 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1421433644 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS147116390 | Health Risk | Conflicting classifications of pathogenicity | RERE-related disorder, Inborn genetic diseases, Neurodevelopmental disorder with or without anomalies of the brain |
| RS149900041 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1557583707 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Neurodevelopmental disorder with or without anomalies of the brain, eye |
| RS1641387459 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, RERE-related disorder, Inborn genetic diseases |
| RS1641706044 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart |
| RS200722937 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201404177 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201570536 | Health Risk | Conflicting classifications of pathogenicity | RERE-related disorder, RERE-related disorder |
| RS202121539 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2124364640 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart |
| RS373405022 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS374813758 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Neurodevelopmental disorder with or without anomalies of the brain, eye |
| RS375547664 | Health Risk | Conflicting classifications of pathogenicity | Developmental disorder, Inborn genetic diseases, Developmental disorder |
| RS377540500 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS529517891 | Health Risk | Conflicting classifications of pathogenicity | RERE-related disorder, Inborn genetic diseases, RERE-related disorder |
| RS542632090 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart |
| RS560145297 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart |
| RS571432854 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS571471435 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart |
| RS745806637 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart |
| RS745993033 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS747205797 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS749071713 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS757676858 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart |
| RS759228432 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS760644002 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS761875399 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, RERE-related disorder, Inborn genetic diseases |
| RS767172334 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Neurodevelopmental disorder with or without anomalies of the brain, eye |
| RS769497707 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS769674978 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart |
| RS771321205 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS772325482 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS777401627 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS778692247 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Neurodevelopmental disorder with or without anomalies of the brain, eye |
| RS779300628 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS781019481 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS781218645 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart |
| RS868002362 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart |
| RS886196440 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS897627996 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS968110677 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Neurodevelopmental disorder with or without anomalies of the brain, eye |
| RS977359991 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart |