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Fetal anomalies

Gene: TRPS1

Red List (low evidence)
TRPS1 (transcriptional repressor GATA binding 1)
EnsemblGeneIds (GRCh38): ENSG00000104447
EnsemblGeneIds (GRCh37): ENSG00000104447
OMIM: 604386, Gene2Phenotype
TRPS1 is in 6 panels

1 review

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

Trichorhinophalangeal syndrome (TRPS) is characterized by postnatal short stature craniofacial and skeletal abnormalities. Craniofacial features include sparse, slowly growing scalp hair, laterally sparse eyebrows, a bulbous tip of the nose, protruding ears, long flat philtrum, and thin upper vermillion border. Typical radiographic findings in TRPS are cone-shaped epiphyses and hip malformations. In older patients, the hip abnormalities resemble degenerative arthrosis. Most patients with nonsense mutations in TRPS1 gene have less severe TRPS type I phenotype, while patients with missense mutations in the GATA-type zinc-finger region of the TRPS1 gene have more severe TRPS type III phenotype.
Not prenatal presentation so not for fetal anomalies panel.
Created: 21 Feb 2022, 4:40 a.m. | Last Modified: 21 Feb 2022, 4:40 a.m.
Panel Version: 0.3721

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Trichorhinophalangeal syndrome, type I, OMIM #190350; Trichorhinophalangeal syndrome, type III, OMIM #190351

Publications

Created: 21 Feb 2022, 4:40 a.m.
Last Modified: 21 Feb 2022, 4:40 a.m.
Panel version: 0.3721

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Trichorhinophalangeal syndrome, type I, OMIM #190350
  • Trichorhinophalangeal syndrome, type III, OMIM #190351
OMIM
604386
Clinvar variants
Variants in TRPS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: trps1 has been classified as Red List (Low Evidence).

21 Feb 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TRPS1 were changed from TRICHO-RHINO-PHALANGEAL SYNDROME TYPE 1 to Trichorhinophalangeal syndrome, type I, OMIM #190350; Trichorhinophalangeal syndrome, type III, OMIM #190351

21 Feb 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TRPS1 were set to

21 Feb 2022, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TRPS1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

21 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: trps1 has been classified as Red List (Low Evidence).

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TRPS1 was added gene: TRPS1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: TRPS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TRPS1 were set to TRICHO-RHINO-PHALANGEAL SYNDROME TYPE 1