ZMYM3 Chromosome X
Zinc finger MYM-type containing 3
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What This Gene Does
This gene is located on the X chromosome and is subject to X inactivation. It is highly conserved in vertebrates and most abundantly expressed in the brain. The encoded protein is a component of histone deacetylase-containing multiprotein complexes that function through modifying chromatin structure to keep genes silent. A chromosomal translocation (X;13) involving this gene is associated with X-linked cognitive disability. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2010]
Gene Info
Gene Group
Zinc fingers MYM-type
Locus Type
gene with protein product
Location
Xq13.1
Ensembl
ENSG00000147130
Associated Conditions (7)
Intellectual developmental disorder
X-linked 112
Inborn genetic diseases
Global developmental delay
Abnormal facial shape
Hyporeflexia
Neonatal hypotonia
Key Variants
RS139405380
Conflicting classifications of pathogenicity
Health Risk
RS142437272
Conflicting classifications of pathogenicity
Health Risk
RS587777358
Conflicting classifications of pathogenicity
Intellectual developmental disorder, X-linked 112, Intellectual developmental disorder
Health Risk
RS879255361
Conflicting classifications of pathogenicity
Intellectual developmental disorder, X-linked 112, Intellectual developmental disorder
Health Risk
RS937809555
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2147988068
Likely pathogenic
Global developmental delay, Abnormal facial shape, Hyporeflexia
Health Risk
RS2519822410
Likely pathogenic
Intellectual developmental disorder, X-linked 112, Intellectual developmental disorder
Health Risk
RS2519835731
Pathogenic
Intellectual developmental disorder, X-linked 112, Intellectual developmental disorder
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139405380 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS142437272 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS587777358 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder, X-linked 112, Intellectual developmental disorder |
| RS879255361 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder, X-linked 112, Intellectual developmental disorder |
| RS937809555 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2147988068 | Health Risk | Likely pathogenic | Global developmental delay, Abnormal facial shape, Hyporeflexia |
| RS2519822410 | Health Risk | Likely pathogenic | Intellectual developmental disorder, X-linked 112, Intellectual developmental disorder |
| RS2519835731 | Health Risk | Pathogenic | Intellectual developmental disorder, X-linked 112, Intellectual developmental disorder |