TRPS1 Chromosome 8

Transcriptional repressor GATA binding 1
161 variants 161 Health Risk

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
RS2130444163 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
RS2130444402 Health Risk Pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal dysplasia type I
RS2130444603 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
RS2130444636 Health Risk Pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal dysplasia type I
RS2130445285 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
RS2130445786 Health Risk Pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome, type III
RS2130445833 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
RS2130445981 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
RS2130489877 Health Risk Pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal dysplasia type I
RS2130490634 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
RS2130491235 Health Risk Pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome, type III
RS2130491759 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
RS2130492512 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
RS2130493020 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
RS2130493086 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
RS2130493114 Health Risk Pathogenic Trichorhinophalangeal syndrome, Trichorhinophalangeal syndrome
RS2130494014 Health Risk Pathogenic —
RS2130530613 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
RS2130531352 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
RS2130531887 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
RS2130531960 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
RS2536580992 Health Risk Pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal dysplasia type I
RS2536581337 Health Risk Pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome, type III
RS2536582212 Health Risk Pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome, type III
RS2536582397 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal syndrome
RS2536582790 Health Risk Pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome, type III
RS2536583263 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
RS2536588559 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
RS2536588687 Health Risk Pathogenic Sarcoma, Sarcoma
RS2536860363 Health Risk Pathogenic —
RS2536860822 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
RS2536860942 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
RS2536861390 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
RS2536861441 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
RS2536888086 Health Risk Pathogenic —
RS2536888237 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
RS2536888603 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
RS2536888816 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
RS2536890328 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
RS2536890438 Health Risk Pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome, type III
RS2536890739 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
RS2536890849 Health Risk Pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal dysplasia type I
RS2536891347 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
RS2536913760 Health Risk Pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal dysplasia type I
RS2536914014 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
RS2536914279 Health Risk Pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal dysplasia type I
RS2536915201 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
RS2536916470 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
RS28939069 Health Risk Pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome, type III
RS368166434 Health Risk Pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome, type III
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