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Mendeliome

Gene: RSPO2

Green List (high evidence)

RSPO2 (R-spondin 2)
EnsemblGeneIds (GRCh38): ENSG00000147655
EnsemblGeneIds (GRCh37): ENSG00000147655
OMIM: 610575, Gene2Phenotype
RSPO2 is in 3 panels

1 review

Belinda Chong (Victorian Clinical Genetics Services)

Green List (high evidence)

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: 7 Apr 2022, 1:52 a.m. | Last Modified: 7 Apr 2022, 1:52 a.m.
Panel Version: 0.12728

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Tetraamelia syndrome 2, MIM# 618021

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Tetraamelia syndrome 2, MIM# 618021
OMIM
610575
Clinvar variants
Variants in RSPO2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rspo2 has been classified as Green List (High Evidence).

7 Apr 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RSPO2 were changed from to Tetraamelia syndrome 2, MIM# 618021

7 Apr 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RSPO2 were set to

7 Apr 2022, Gel status: 3

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RSPO2 was added gene: RSPO2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RSPO2 was set to Unknown