Clefting disorders
Gene: RSPO2EnsemblGeneIds (GRCh38): ENSG00000147655
EnsemblGeneIds (GRCh37): ENSG00000147655
OMIM: 610575, Gene2Phenotype
RSPO2 is in 3 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Tetraamelia syndrome-2 (TETAMS2) is characterized by rudimentary appendages or complete absence of the limbs, usually symmetric, as well as bilateral agenesis of the lungs. There are abnormalities of the pulmonary vasculature and dysmorphic features, including bilateral cleft lip/palate, ankyloglossia, mandibular hypoplasia, microretrognathia, and labioscrotal fold aplasia.
Four unrelated families and functional data including animal model.Created: 29 Jan 2021, 3:31 a.m. | Last Modified: 29 Jan 2021, 3:31 a.m.
Panel Version: 0.9
Phenotypes
Tetraamelia syndrome 2, MIM# 618021
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Tetraamelia syndrome 2, MIM# 618021
- Cleft lip and palate
- OMIM
- 610575
- Clinvar variants
- Variants in RSPO2
- 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: rspo2 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: RSPO2 were changed from Cleft lip to Tetraamelia syndrome 2, MIM# 618021; Cleft lip and palate
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: RSPO2 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: RSPO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rspo2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: RSPO2 was added gene: RSPO2 was added to Clefting_GEL. Sources: Expert list,Expert Review Red Mode of inheritance for gene: RSPO2 was set to Unknown Phenotypes for gene: RSPO2 were set to Cleft lip