SETD5 Chromosome 3
SET domain containing 5
Upload your DNA to see your personal genotypes for variants in SETD5.
What This Gene Does
This function of this gene has yet to be determined but based on sequence similarity to other SET domain proteins it may function as a histone methyltransferase. Mutations in this gene have been associated with an autosomal dominant form of intellectual disability. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2017]
Gene Info
Gene Group
"SET domain containing|Putative lysine methyltransferases"
Locus Type
gene with protein product
Location
3p25.3
Ensembl
ENSG00000168137
Associated Conditions (22)
Inborn genetic diseases
SETD5-related disorder
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
Neurodevelopmental disorder
Intellectual disability
Moyamoya angiopathy with developmental delay
See cases
Polymicrogyria
Chromatinopathy
Neurodevelopmental delay
Rare genetic intellectual disability
Developmental disorder
Neurodevelopmental abnormality
Cleft palate
Cleft lip
KBG syndrome
Autism spectrum disorder
Cornelia de Lange-like syndrome
Global developmental delay
Heart
+2 more conditions
Key Variants
RS1002403677
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1049067352
Conflicting classifications of pathogenicity
Health Risk
RS1052957698
Conflicting classifications of pathogenicity
Health Risk
RS1165727019
Conflicting classifications of pathogenicity
Inborn genetic diseases, SETD5-related disorder, Inborn genetic diseases
Health Risk
RS1202232628
Conflicting classifications of pathogenicity
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
Health Risk
RS1270531724
Conflicting classifications of pathogenicity
Health Risk
RS1301522020
Conflicting classifications of pathogenicity
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
Health Risk
RS1335595318
Conflicting classifications of pathogenicity
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
Health Risk
RS1349032508
Conflicting classifications of pathogenicity
Inborn genetic diseases, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Inborn genetic diseases
Health Risk
RS1412309993
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1434450419
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1438851980
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (274)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS587777325 | Health Risk | Pathogenic | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency |
| RS587777326 | Health Risk | Pathogenic | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency |
| RS587777327 | Health Risk | Pathogenic | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Inborn genetic diseases, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency |
| RS587777328 | Health Risk | Pathogenic | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency |
| RS751539788 | Health Risk | Pathogenic | — |
| RS763827023 | Health Risk | Pathogenic | — |
| RS780130566 | Health Risk | Pathogenic | — |
| RS797044953 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS864321657 | Health Risk | Pathogenic | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Neurodevelopmental disorder, Inborn genetic diseases |
| RS886039432 | Health Risk | Pathogenic | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency |
| RS886041593 | Health Risk | Pathogenic | Inborn genetic diseases, See cases, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency |
| RS886041755 | Health Risk | Pathogenic | — |
| RS925484505 | Health Risk | Pathogenic | KBG syndrome, KBG syndrome |
| RS1421204500 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, SETD5-related disorder, Inborn genetic diseases |
| RS1553635637 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, SETD5-related disorder, Inborn genetic diseases |
| RS1559496157 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency |
| RS2042191795 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency |
| RS2045524028 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Inborn genetic diseases, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency |
| RS2125193661 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency |
| RS2125281306 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Inborn genetic diseases, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency |
| RS2472657657 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, SETD5-related disorder, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency |
| RS369459846 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency |
| RS587777329 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Inborn genetic diseases, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency |
| RS751310320 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency |