MED25 Chromosome 19
Mediator complex subunit 25
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What This Gene Does
This gene encodes a component of the transcriptional coactivator complex termed the Mediator complex. This complex is required for transcription of most RNA polymerase II-dependent genes. The encoded protein plays a role in chromatin modification and in preinitiation complex assembly. Mutations in this gene are associated with Charcot-Marie-Tooth disease type 2B2. [provided by RefSeq, Apr 2010]
Gene Info
Gene Group
"Mediator complex|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
19q13.33
Ensembl
ENSG00000104973
Associated Conditions (10)
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
MED25-related disorder
Inborn genetic diseases
Charcot-Marie-Tooth disease type 2B2
Tip-toe gait
Lung cancer
Neurodevelopmental delay
Neurodevelopmental disorder
Key Variants
RS1223073957
Conflicting classifications of pathogenicity
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome, Charcot-Marie-Tooth disease type 2, Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
Health Risk
RS142353864
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease, MED25-related disorder
Health Risk
RS144354024
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Inborn genetic diseases, Charcot-Marie-Tooth disease type 2
Health Risk
RS145770066
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2B2, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2
Health Risk
RS199743509
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease, Inborn genetic diseases
Health Risk
RS199761611
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease, Tip-toe gait
Health Risk
RS2074044055
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome, Charcot-Marie-Tooth disease type 2
Health Risk
RS2074049374
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Inborn genetic diseases, Charcot-Marie-Tooth disease type 2
Health Risk
RS369006637
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease, Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
Health Risk
RS369707406
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome, Inborn genetic diseases
Health Risk
RS374108763
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
Health Risk
RS535472885
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2B2, Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome, Charcot-Marie-Tooth disease type 2
Health Risk
All Variants (27)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1223073957 | Health Risk | Conflicting classifications of pathogenicity | Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome, Charcot-Marie-Tooth disease type 2, Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome |
| RS142353864 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease, MED25-related disorder |
| RS144354024 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Inborn genetic diseases, Charcot-Marie-Tooth disease type 2 |
| RS145770066 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2B2, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2 |
| RS199743509 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease, Inborn genetic diseases |
| RS199761611 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease, Tip-toe gait |
| RS2074044055 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome, Charcot-Marie-Tooth disease type 2 |
| RS2074049374 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Inborn genetic diseases, Charcot-Marie-Tooth disease type 2 |
| RS369006637 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease, Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome |
| RS369707406 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome, Inborn genetic diseases |
| RS374108763 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS535472885 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2B2, Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome, Charcot-Marie-Tooth disease type 2 |
| RS561588731 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS748546983 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome, Charcot-Marie-Tooth disease type 2 |
| RS756463606 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Charcot-Marie-Tooth disease type 2, Inborn genetic diseases |
| RS758524310 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome, Charcot-Marie-Tooth disease type 2 |
| RS76613506 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Tip-toe gait, Charcot-Marie-Tooth disease type 2 |
| RS770792425 | Health Risk | Conflicting classifications of pathogenicity | Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome, Charcot-Marie-Tooth disease type 2B2, Charcot-Marie-Tooth disease type 2 |
| RS776291104 | Health Risk | Conflicting classifications of pathogenicity | Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome, Charcot-Marie-Tooth disease, Neurodevelopmental delay |
| RS918394135 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Neurodevelopmental delay, Inborn genetic diseases |
| RS1064795342 | Health Risk | Likely pathogenic | — |
| RS1555802864 | Health Risk | Likely pathogenic | — |
| RS2514495299 | Health Risk | Likely pathogenic | Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome, Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome |
| RS551069830 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS769412873 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS794729668 | Health Risk | Pathogenic | Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome, Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome |
| RS781140315 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 2, Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome, Charcot-Marie-Tooth disease type 2 |