MED13L Chromosome 12
Mediator complex subunit 13L
Upload your DNA to see your personal genotypes for variants in MED13L.
What This Gene Does
The protein encoded by this gene is a subunit of the Mediator complex, a large complex of proteins that functions as a transcriptional coactivator for most RNA polymerase II-transcribed genes. The encoded protein is involved in early development of the heart and brain. Defects in this gene are a cause of transposition of the great arteries, dextro-looped (DTGA).[provided by RefSeq, Jul 2010]
Gene Info
Gene Group
"Mediator complex|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
12q24.21
Ensembl
ENSG00000123066
Associated Conditions (20)
Dextro-looped transposition of the great arteries
Inborn genetic diseases
Cardiac anomalies - developmental delay - facial dysmorphism syndrome
MED13L-related disorder
See cases
Intellectual disability
Thymoma
Global developmental delay
MED13L-related neurodevelopmental disorder
Marfanoid habitus and intellectual disability
Rare genetic intellectual disability
Neurodevelopmental disorder
Strabismus
Motor delay
Delayed speech and language development
Vesicoureteral reflux
Autism spectrum disorder
Chromatinopathy
Impaired intellectual development and distinctive facial features with cardiac defects
Kabuki-like syndrome
Key Variants
RS1034459470
Conflicting classifications of pathogenicity
Dextro-looped transposition of the great arteries, Inborn genetic diseases, Dextro-looped transposition of the great arteries
Health Risk
RS1157874688
Conflicting classifications of pathogenicity
Dextro-looped transposition of the great arteries, Inborn genetic diseases, Dextro-looped transposition of the great arteries
Health Risk
RS1164114098
Conflicting classifications of pathogenicity
Dextro-looped transposition of the great arteries, Dextro-looped transposition of the great arteries
Health Risk
RS1177608611
Conflicting classifications of pathogenicity
Dextro-looped transposition of the great arteries, Dextro-looped transposition of the great arteries
Health Risk
RS1193527567
Conflicting classifications of pathogenicity
Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Dextro-looped transposition of the great arteries, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
Health Risk
RS1210016465
Conflicting classifications of pathogenicity
Dextro-looped transposition of the great arteries, Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Inborn genetic diseases
Health Risk
RS1231044656
Conflicting classifications of pathogenicity
Dextro-looped transposition of the great arteries, Dextro-looped transposition of the great arteries
Health Risk
RS1342461504
Conflicting classifications of pathogenicity
Dextro-looped transposition of the great arteries, Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Dextro-looped transposition of the great arteries
Health Risk
RS1345208839
Conflicting classifications of pathogenicity
Dextro-looped transposition of the great arteries, Dextro-looped transposition of the great arteries
Health Risk
RS139163900
Conflicting classifications of pathogenicity
Dextro-looped transposition of the great arteries, Inborn genetic diseases, Dextro-looped transposition of the great arteries
Health Risk
RS1417904088
Conflicting classifications of pathogenicity
Dextro-looped transposition of the great arteries, Inborn genetic diseases, Dextro-looped transposition of the great arteries
Health Risk
RS142102185
Conflicting classifications of pathogenicity
Dextro-looped transposition of the great arteries, Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Dextro-looped transposition of the great arteries
Health Risk
All Variants (304)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1064796611 | Health Risk | Pathogenic | Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome |
| RS1131691386 | Health Risk | Pathogenic | — |
| RS1131691671 | Health Risk | Pathogenic | — |
| RS1131691764 | Health Risk | Pathogenic | Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome |
| RS1135401765 | Health Risk | Pathogenic | Cardiac anomalies - developmental delay - facial dysmorphism syndrome, See cases, Cardiac anomalies - developmental delay - facial dysmorphism syndrome |
| RS1135401766 | Health Risk | Pathogenic | Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome |
| RS1135401810 | Health Risk | Pathogenic | Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome |
| RS1205283728 | Health Risk | Pathogenic | — |
| RS1219697193 | Health Risk | Pathogenic | — |
| RS1376289620 | Health Risk | Pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS139063441 | Health Risk | Pathogenic | Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome |
| RS147976828 | Health Risk | Pathogenic | Cardiac anomalies - developmental delay - facial dysmorphism syndrome, MED13L-related disorder, Cardiac anomalies - developmental delay - facial dysmorphism syndrome |
| RS1555225472 | Health Risk | Pathogenic | — |
| RS1555239936 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1555240359 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1555240361 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1555243059 | Health Risk | Pathogenic | Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome |
| RS1555243086 | Health Risk | Pathogenic | — |
| RS1555243400 | Health Risk | Pathogenic | — |
| RS1555243582 | Health Risk | Pathogenic | Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome |
| RS1555244975 | Health Risk | Pathogenic | — |
| RS1555245108 | Health Risk | Pathogenic | Cardiac anomalies - developmental delay - facial dysmorphism syndrome, MED13L-related disorder, Cardiac anomalies - developmental delay - facial dysmorphism syndrome |
| RS1555246952 | Health Risk | Pathogenic | Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome |
| RS1555247469 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1555247672 | Health Risk | Pathogenic | Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome |
| RS1555247699 | Health Risk | Pathogenic | Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome |
| RS1555247800 | Health Risk | Pathogenic | Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome |
| RS1555247805 | Health Risk | Pathogenic | Strabismus, Motor delay, Delayed speech and language development |
| RS1555247853 | Health Risk | Pathogenic | Inborn genetic diseases, Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Inborn genetic diseases |
| RS1555247936 | Health Risk | Pathogenic | Inborn genetic diseases, Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Inborn genetic diseases |
| RS1555248020 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1555249561 | Health Risk | Pathogenic | — |
| RS1555249664 | Health Risk | Pathogenic | — |
| RS1555250044 | Health Risk | Pathogenic | Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome |
| RS1565982697 | Health Risk | Pathogenic | Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome |
| RS1565985681 | Health Risk | Pathogenic | — |
| RS1565987758 | Health Risk | Pathogenic | Dextro-looped transposition of the great arteries, Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Dextro-looped transposition of the great arteries |
| RS1565995034 | Health Risk | Pathogenic | Dextro-looped transposition of the great arteries, Dextro-looped transposition of the great arteries |
| RS1565995054 | Health Risk | Pathogenic | — |
| RS1565997261 | Health Risk | Pathogenic | Dextro-looped transposition of the great arteries, Dextro-looped transposition of the great arteries |
| RS1566005476 | Health Risk | Pathogenic | Dextro-looped transposition of the great arteries, Dextro-looped transposition of the great arteries |
| RS1566011496 | Health Risk | Pathogenic | — |
| RS1592891007 | Health Risk | Pathogenic | — |
| RS1592915896 | Health Risk | Pathogenic | — |
| RS1592919048 | Health Risk | Pathogenic | Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Autism spectrum disorder, Cardiac anomalies - developmental delay - facial dysmorphism syndrome |
| RS1592941857 | Health Risk | Pathogenic | — |
| RS1592953902 | Health Risk | Pathogenic | Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome |
| RS1593039493 | Health Risk | Pathogenic | — |
| RS1593238375 | Health Risk | Pathogenic | — |
| RS1870200055 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |