TRPS1 Chromosome 8
Transcriptional repressor GATA binding 1
Upload your DNA to see your personal genotypes for variants in TRPS1.
What This Gene Does
This gene encodes a transcription factor that represses GATA-regulated genes and binds to a dynein light chain protein. Binding of the encoded protein to the dynein light chain protein affects binding to GATA consensus sequences and suppresses its transcriptional activity. Defects in this gene are a cause of tricho-rhino-phalangeal syndrome (TRPS) types I-III. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Zinc fingers C2H2-type|GATA zinc finger domain containing"
Locus Type
gene with protein product
Location
8q23.3
Ensembl
ENSG00000104447
Associated Conditions (16)
Trichorhinophalangeal syndrome
type III
Trichorhinophalangeal dysplasia type I
Inborn genetic diseases
TRPS1-related disorder
Metaphyseal chondrodysplasia
See cases
7 conditions
Congenital anomaly of kidney and urinary tract
Langer-Giedion syndrome
Trichorhinophalangeal syndrome type 1 and 3
Sarcoma
Alopecia areata
Brachydactyly
Proportionate short stature
Pear-shaped nose
Key Variants
RS1427693895
Conflicting classifications of pathogenicity
Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
Health Risk
RS148023627
Conflicting classifications of pathogenicity
Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
Health Risk
RS1554617580
Conflicting classifications of pathogenicity
Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome, type III
Health Risk
RS181858552
Conflicting classifications of pathogenicity
Inborn genetic diseases, Trichorhinophalangeal syndrome, type III
Health Risk
RS200964070
Conflicting classifications of pathogenicity
Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
Health Risk
RS201029096
Conflicting classifications of pathogenicity
Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
Health Risk
RS201030937
Conflicting classifications of pathogenicity
Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
Health Risk
RS201699015
Conflicting classifications of pathogenicity
See cases, Trichorhinophalangeal syndrome, type III
Health Risk
RS202158991
Conflicting classifications of pathogenicity
Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
Health Risk
RS367794981
Conflicting classifications of pathogenicity
Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
Health Risk
RS368980249
Conflicting classifications of pathogenicity
Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
Health Risk
RS369004633
Conflicting classifications of pathogenicity
Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
Health Risk
All Variants (161)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS748664291 | Health Risk | Pathogenic | — |
| RS751565386 | Health Risk | Pathogenic | Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome, type III |
| RS755557039 | Health Risk | Pathogenic | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I |
| RS864621974 | Health Risk | Pathogenic | Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal dysplasia type I |
| RS886040971 | Health Risk | Pathogenic | Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome, type III |
| RS886042507 | Health Risk | Pathogenic | — |
| RS1057518972 | Health Risk | Pathogenic/Likely pathogenic | Alopecia areata, Brachydactyly, Proportionate short stature |
| RS2130444978 | Health Risk | Pathogenic/Likely pathogenic | Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome, type III |
| RS2536583024 | Health Risk | Pathogenic/Likely pathogenic | Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome, type III |
| RS2536862481 | Health Risk | Pathogenic/Likely pathogenic | Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I |
| RS28939070 | Health Risk | Pathogenic/Likely pathogenic | Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome, type III |