PanelApp
  1. Genes and Genomic Entities
  2. TRPS1

TRPS1

transcriptional repressor GATA binding 1
OMIM: 604386, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green TRPS1 in Mendeliome


Version 1.3512

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Trichorhinophalangeal syndrome, type I, OMIM # 190350
  • Trichorhinophalangeal syndrome, type III, OMIM # 190351

Green TRPS1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.346

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • NHS GMS
  • Expert list
  • Emory Genetics Laboratory
  • Victorian Clinical Genetics Services
Phenotypes
  • Trichorhinophalangeal syndrome, type I 190350
  • Trichorhinophalangeal syndrome, type III 190351

Green TRPS1 in Hair disorders


Level 2: Dermatological disorders
Version 0.81

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Trichorhinophalangeal syndrome, type III, 190351
  • Trichorhinophalangeal syndrome, type I, 190350

Green TRPS1 in Growth failure


Version 1.83

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Trichorhinophalangeal syndrome, type I, OMIM # 190350
  • Trichorhinophalangeal syndrome, type III, OMIM # 190351

Green TRPS1 in Hand and foot malformations


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.78

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Trichorhinophalangeal syndrome, type III 190351
    • Trichorhinophalangeal syndrome, type I 190350

    Red TRPS1 in Fetal anomalies


    Version 1.465

    		1 review 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