IRF2BPL Chromosome 14
Interferon regulatory factor 2 binding protein like
Upload your DNA to see your personal genotypes for variants in IRF2BPL.
What This Gene Does
This gene encodes a transcription factor that may play a role in regulating female reproductive function. [provided by RefSeq, Jun 2012]
Associated Conditions (13)
IRF2BPL-related disorder
Inborn genetic diseases
Intellectual disability
Neurodevelopmental disorder with regression
abnormal movements
loss of speech
and seizures
Developmental disorder
See cases
Neurodevelopmental disorder
Spastic paraplegia
Global developmental delay
Autism spectrum disorder
Key Variants
RS142468978
Conflicting classifications of pathogenicity
IRF2BPL-related disorder, Inborn genetic diseases, Intellectual disability
Health Risk
RS1555377415
Conflicting classifications of pathogenicity
IRF2BPL-related disorder, IRF2BPL-related disorder
Health Risk
RS1566786923
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with regression, abnormal movements, loss of speech
Health Risk
RS1594797693
Conflicting classifications of pathogenicity
Inborn genetic diseases, Neurodevelopmental disorder with regression, abnormal movements
Health Risk
RS200317113
Conflicting classifications of pathogenicity
Health Risk
RS371633333
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with regression, abnormal movements, loss of speech
Health Risk
RS749893268
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with regression, abnormal movements, loss of speech
Health Risk
RS751627340
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS760501664
Conflicting classifications of pathogenicity
IRF2BPL-related disorder, IRF2BPL-related disorder
Health Risk
RS765748046
Conflicting classifications of pathogenicity
Inborn genetic diseases, Intellectual disability, Inborn genetic diseases
Health Risk
RS780441372
Conflicting classifications of pathogenicity
See cases, Inborn genetic diseases, See cases
Health Risk
RS1160246842
Likely pathogenic
Neurodevelopmental disorder with regression, abnormal movements, loss of speech
Health Risk
All Variants (77)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1885106828 | Health Risk | Pathogenic | Neurodevelopmental disorder with regression, abnormal movements, loss of speech |
| RS1885185522 | Health Risk | Pathogenic | Neurodevelopmental disorder with regression, abnormal movements, loss of speech |
| RS201073695 | Health Risk | Pathogenic | Neurodevelopmental disorder with regression, abnormal movements, loss of speech |
| RS2139975910 | Health Risk | Pathogenic | — |
| RS2139976004 | Health Risk | Pathogenic | Neurodevelopmental disorder with regression, abnormal movements, loss of speech |
| RS2139976167 | Health Risk | Pathogenic | Neurodevelopmental disorder with regression, abnormal movements, loss of speech |
| RS2139976783 | Health Risk | Pathogenic | — |
| RS2503074347 | Health Risk | Pathogenic | Neurodevelopmental disorder with regression, abnormal movements, loss of speech |
| RS2503074426 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2503074542 | Health Risk | Pathogenic | Neurodevelopmental disorder with regression, abnormal movements, loss of speech |
| RS2503074890 | Health Risk | Pathogenic | Autism spectrum disorder, Autism spectrum disorder |
| RS2503076637 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2503078022 | Health Risk | Pathogenic | Neurodevelopmental disorder with regression, abnormal movements, loss of speech |
| RS2503078190 | Health Risk | Pathogenic | Neurodevelopmental disorder with regression, abnormal movements, loss of speech |
| RS2503078573 | Health Risk | Pathogenic | — |
| RS2503078942 | Health Risk | Pathogenic | Neurodevelopmental disorder with regression, abnormal movements, loss of speech |
| RS2503078947 | Health Risk | Pathogenic | — |
| RS2503079126 | Health Risk | Pathogenic | — |
| RS2503079188 | Health Risk | Pathogenic | Neurodevelopmental disorder with regression, abnormal movements, loss of speech |
| RS1345176461 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with regression, abnormal movements, loss of speech |
| RS1448259271 | Health Risk | Pathogenic/Likely pathogenic | IRF2BPL-related disorder, IRF2BPL-related disorder |
| RS1566785444 | Health Risk | Pathogenic/Likely pathogenic | IRF2BPL-related disorder, IRF2BPL-related disorder |
| RS1566786613 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with regression, abnormal movements, loss of speech |
| RS1885174753 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with regression, abnormal movements, loss of speech |
| RS2140377628 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with regression, abnormal movements, loss of speech |
| RS2140377693 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with regression, abnormal movements, loss of speech |
| RS2140377848 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |