TRPS1

transcriptional repressor GATA binding 1
OMIM: 604386, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green TRPS1 in Mendeliome Version 1.1891	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 0.285	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 0.71	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 1.76	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 0.74 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	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 1.255	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