Growth failure
Gene: TRPS1EnsemblGeneIds (GRCh38): ENSG00000104447
EnsemblGeneIds (GRCh37): ENSG00000104447
OMIM: 604386, Gene2Phenotype
TRPS1 is in 6 panels
1 review
Chirag Patel (Genetic Health Queensland)
Trichorhinophalangeal syndrome (TRPS) is characterised by sparse, slowly growing scalp hair, laterally sparse eyebrows, bulbous tip of the nose, protruding ears, long flat philtrum, thin upper vermillion border, cone-shaped epiphyses (middle phalanges), and hip malformations (coxa plana, coxa magna, or coxa vara, degenerative arthrosis). TRPS3 differs from TRPS1 by the presence of severe brachydactyly, due to short metacarpals, and severe short stature.
Momeni et al. (2000) identified 6 different nonsense mutations in the TRPS1 gene in 10 unrelated patients. Ludecke et al. (2001) found 35 different mutations in TRPS1 in 44 unrelated patients with TRPS I or TRPS III. The detection rate (86%) indicated that TRPS1 is the major locus for both type I and type III TRPS. They found no mutation in the parents of sporadic patients or in apparently healthy relatives of familial patients, indicating complete penetrance of TRPS1 mutations.
Sources: LiteratureCreated: 19 Aug 2021, 10:50 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Trichorhinophalangeal syndrome, type I, OMIM # 190350; Trichorhinophalangeal syndrome, type III, OMIM # 190351
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: trps1 has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: TRPS1 were set to PubMed: 11112658, 10615131
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: trps1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: TRPS1 was added gene: TRPS1 was added to Growth failure in early childhood. Sources: Literature Mode of inheritance for gene: TRPS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRPS1 were set to PubMed: 11112658, 10615131 Phenotypes for gene: TRPS1 were set to Trichorhinophalangeal syndrome, type I, OMIM # 190350; Trichorhinophalangeal syndrome, type III, OMIM # 190351 Review for gene: TRPS1 was set to GREEN