TRPS1 Chromosome 8

Transcriptional repressor GATA binding 1

161 variants 161 Health Risk

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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
RS1427693895	Health Risk	Conflicting classifications of pathogenicity	Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
RS148023627	Health Risk	Conflicting classifications of pathogenicity	Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
RS1554617580	Health Risk	Conflicting classifications of pathogenicity	Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome, type III
RS181858552	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Trichorhinophalangeal syndrome, type III
RS200964070	Health Risk	Conflicting classifications of pathogenicity	Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
RS201029096	Health Risk	Conflicting classifications of pathogenicity	Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
RS201030937	Health Risk	Conflicting classifications of pathogenicity	Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
RS201699015	Health Risk	Conflicting classifications of pathogenicity	See cases, Trichorhinophalangeal syndrome, type III
RS202158991	Health Risk	Conflicting classifications of pathogenicity	Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
RS367794981	Health Risk	Conflicting classifications of pathogenicity	Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
RS368980249	Health Risk	Conflicting classifications of pathogenicity	Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
RS369004633	Health Risk	Conflicting classifications of pathogenicity	Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
RS369619683	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Trichorhinophalangeal syndrome, type III
RS371696692	Health Risk	Conflicting classifications of pathogenicity	Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
RS372605816	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Trichorhinophalangeal syndrome, type III
RS373433625	Health Risk	Conflicting classifications of pathogenicity	Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome, type III
RS373510969	Health Risk	Conflicting classifications of pathogenicity	Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome, type III
RS375022768	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Trichorhinophalangeal syndrome, type III
RS376875568	Health Risk	Conflicting classifications of pathogenicity	Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome, type III
RS377192542	Health Risk	Conflicting classifications of pathogenicity	Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
RS537354921	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome
RS576991429	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Trichorhinophalangeal syndrome, type III
RS61758125	Health Risk	Conflicting classifications of pathogenicity	Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
RS749022707	Health Risk	Conflicting classifications of pathogenicity	Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
RS763955674	Health Risk	Conflicting classifications of pathogenicity	Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
RS780885595	Health Risk	Conflicting classifications of pathogenicity	Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
RS886043582	Health Risk	Conflicting classifications of pathogenicity	Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
RS886043713	Health Risk	Conflicting classifications of pathogenicity	—
RS1057518791	Health Risk	Likely pathogenic	7 conditions, 7 conditions
RS1064794697	Health Risk	Likely pathogenic	—
RS121908435	Health Risk	Likely pathogenic	Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
RS1554596418	Health Risk	Likely pathogenic	Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal dysplasia type I
RS1554598891	Health Risk	Likely pathogenic	—
RS1554617573	Health Risk	Likely pathogenic	Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal dysplasia type I
RS1586249260	Health Risk	Likely pathogenic	Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome, type III
RS1586254022	Health Risk	Likely pathogenic	—
RS1812876043	Health Risk	Likely pathogenic	Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal dysplasia type I
RS1812971156	Health Risk	Likely pathogenic	Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
RS1817974591	Health Risk	Likely pathogenic	Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal dysplasia type I
RS1817986949	Health Risk	Likely pathogenic	Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal dysplasia type I
RS1818358114	Health Risk	Likely pathogenic	Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal dysplasia type I
RS2129751692	Health Risk	Likely pathogenic	Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
RS2129768973	Health Risk	Likely pathogenic	Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
RS2130494791	Health Risk	Likely pathogenic	Trichorhinophalangeal syndrome, type III, Trichorhinophalangeal dysplasia type I
RS2536580771	Health Risk	Likely pathogenic	Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal dysplasia type I
RS2536583013	Health Risk	Likely pathogenic	TRPS1-related disorder, TRPS1-related disorder
RS2536588340	Health Risk	Likely pathogenic	—
RS2536588626	Health Risk	Likely pathogenic	Trichorhinophalangeal syndrome, Trichorhinophalangeal syndrome
RS2536888088	Health Risk	Likely pathogenic	Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal dysplasia type I
RS2536891407	Health Risk	Likely pathogenic	TRPS1-related disorder, TRPS1-related disorder

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