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Fetal anomalies

Gene: ACVR1

Amber List (moderate evidence)

ACVR1 (activin A receptor type 1)
EnsemblGeneIds (GRCh38): ENSG00000115170
EnsemblGeneIds (GRCh37): ENSG00000115170
OMIM: 102576, Gene2Phenotype
ACVR1 is in 10 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for FIBRODYSPLASIA OSSIFICANS PROGRESSIVA
Created: 11 Dec 2018, 9:04 a.m.
In the original PAGE file, MOP listed as Activating.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • FIBRODYSPLASIA OSSIFICANS PROGRESSIVA
OMIM
102576
Clinvar variants
Variants in ACVR1
Penetrance
None
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: ACVR1 was added gene: ACVR1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ACVR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ACVR1 were set to FIBRODYSPLASIA OSSIFICANS PROGRESSIVA