Ehlers Danlos syndromes

Gene: ACVR1

Red List (low evidence)

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

2 reviews

Angela Brady (Nhs)

Red List (low evidence)

Neeti Ghali (NWTRGS, Northwick Park Hospital)

Red List (low evidence)

In differential diagnosis for OI but not significant overlap with EDS. Review from EDS National Diagnostic Service North West London Hospital NHS Trust: Dr Angela Brady FRCP PhD, Consultant Clinical Geneticist; Dr Neeti Ghali MBChB MD, Consultant Clinical Geneticist; Dr Fleur S van Dijk MD PhD, Consultant.
Created: 7 Jul 2017, 6:29 p.m.

History Filter Activity

25 Jul 2017, Gel status: 1

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.

24 Jan 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ACVR1 was created by ellenmcdonagh

24 Jan 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ACVR1 was added to Ehlers-Danlos syndromespanel. Sources: Expert list,Emory Genetics Laboratory