ZMYM2 Chromosome 13
Zinc finger MYM-type containing 2
Upload your DNA to see your personal genotypes for variants in ZMYM2.
What This Gene Does
The protein encoded by this gene is a zinc finger protein that may act as a transcription factor. The encoded protein may be part of a BHC histone deacetylase complex. Translocation of this gene with the fibroblast growth factor receptor-1 gene (FGFR1) results in a fusion gene, which may be a cause of stem cell leukemia lymphoma syndrome (SCLL). Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010]
Gene Info
Gene Group
Zinc fingers MYM-type
Locus Type
gene with protein product
Location
13q12.11
Ensembl
ENSG00000121741
Associated Conditions (8)
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
Inborn genetic diseases
Neurodevelopmental disorder
Congenital anomaly of kidney and urinary tract
Neurodevelopmental delay
ZMYM2-related disorder
Neurodevelopmental abnormality
Seizure
Key Variants
RS1952668177
Conflicting classifications of pathogenicity
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, Inborn genetic diseases, Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
Health Risk
RS1283173275
Likely pathogenic
Health Risk
RS1299725201
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS1566441592
Likely pathogenic
Health Risk
RS1953476601
Likely pathogenic
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
Health Risk
RS2139746476
Likely pathogenic
Congenital anomaly of kidney and urinary tract, Congenital anomaly of kidney and urinary tract
Health Risk
RS2139911402
Likely pathogenic
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
Health Risk
RS2139911544
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2139949646
Likely pathogenic
Congenital anomaly of kidney and urinary tract, Congenital anomaly of kidney and urinary tract
Health Risk
RS2139974502
Likely pathogenic
Congenital anomaly of kidney and urinary tract, Congenital anomaly of kidney and urinary tract
Health Risk
RS2139974701
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2140253913
Likely pathogenic
Congenital anomaly of kidney and urinary tract, Congenital anomaly of kidney and urinary tract
Health Risk
All Variants (63)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2504196890 | Health Risk | Pathogenic | — |
| RS2504197609 | Health Risk | Pathogenic | — |
| RS746920956 | Health Risk | Pathogenic | Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities |
| RS904779823 | Health Risk | Pathogenic | Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities |
| RS1247894077 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, Inborn genetic diseases, Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities |
| RS2139748846 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, Congenital anomaly of kidney and urinary tract, Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities |
| RS2140253640 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, Congenital anomaly of kidney and urinary tract, Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities |
| RS2140576563 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, Congenital anomaly of kidney and urinary tract, Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities |
| RS2140726371 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, Congenital anomaly of kidney and urinary tract, Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities |
| RS2140727029 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, ZMYM2-related disorder, Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities |
| RS2141041750 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities |
| RS2502238593 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities |
| RS757669327 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, Congenital anomaly of kidney and urinary tract, Inborn genetic diseases |