Vascular Malformations_Germline
Gene: GPRASP1EnsemblGeneIds (GRCh38): ENSG00000198932
EnsemblGeneIds (GRCh37): ENSG00000198932
OMIM: 300417, Gene2Phenotype
GPRASP1 is in 2 panels
1 review
Paul De Fazio (Victorian Clinical Genetics Services)
Two hemizygous germline missense variants, p.Arg1167Trp and p.Trp553Cys, were identified in three male patients presenting with spinal AVM, Cobb syndrome, or scalp AVM. The variants were inherited from unaffected heterozygous mothers. Note that p.Arg1167Trp has hemizygous (>70) and homozygous individuals reported in gnomAD.
The variants were found to result in LoF in endothelial cells. Endothelial Gprasp1 knockout mice suffered a high probability of cerebral hemorrhage, AVMs, and exhibited vascular anomalies in multiple organs.
Sources: LiteratureCreated: 5 Oct 2023, 1:31 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Arteriovenous hemangioma/malformation, GPRASP1-related, MONDO:0001256
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Arteriovenous hemangioma/malformation, GPRASP1-related, MONDO:0001256
- OMIM
- 300417
- Clinvar variants
- Variants in GPRASP1
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Elena Savva (Victorian Clinical Genetics Services)Gene: gprasp1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Elena Savva (Victorian Clinical Genetics Services)Gene: gprasp1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Paul De Fazio (Victorian Clinical Genetics Services)gene: GPRASP1 was added gene: GPRASP1 was added to Vascular Malformations_Germline. Sources: Literature Mode of inheritance for gene: GPRASP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: GPRASP1 were set to 37787182 Phenotypes for gene: GPRASP1 were set to Arteriovenous hemangioma/malformation, GPRASP1-related, MONDO:0001256 Penetrance for gene: GPRASP1 were set to unknown Review for gene: GPRASP1 was set to AMBER gene: GPRASP1 was marked as current diagnostic