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  3. ACVRL1
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Cerebral vascular malformations

Gene: ACVRL1

Green List (high evidence)
ACVRL1 (activin A receptor like type 1)
EnsemblGeneIds (GRCh38): ENSG00000139567
EnsemblGeneIds (GRCh37): ENSG00000139567
OMIM: 601284, Gene2Phenotype
ACVRL1 is in 9 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Combined reviews with Ian Berry (YNELGH), Vijeya Ganesan (Clinical expert - GOSH / ICH) & GEL clinical team (Richard Scott / Helen Brittain): relevant phenotype and sufficient evidence for a green rating
Created: 29 Nov 2019, 6:56 p.m. | Last Modified: 29 Nov 2019, 6:56 p.m.
Panel Version: 1.67
Created: 29 Nov 2019, 6:56 p.m.
Last Modified: 29 Nov 2019, 6:56 p.m.
Panel version: 1.67

Alice Gardham (Genomics England)

Green List (high evidence)

Comment when marking as ready: Green on HHT panel
Created: 14 Dec 2016, 3:44 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Telangiectasia, hereditary hemorrhagic, type 2 600376

Created: 14 Dec 2016, 3:43 p.m.

Panel version: 0.36

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 2, OMIM
  • 600376
OMIM
601284
Clinvar variants
Variants in ACVRL1
Penetrance
Complete
Panels with this gene

History Filter Activity

25 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ACVRL1 were changed from Telangiectasia, hereditary hemorrhagic, type 2 600376 to Telangiectasia, hereditary hemorrhagic, type 2, OMIM; 600376

29 Nov 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to ACVRL1.

29 Nov 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ACVRL1.

19 Dec 2016, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on the 19th December 2016

14 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

14 Dec 2016, Gel status: 3

Added New Source

Alice Gardham (Genomics England)

ACVRL1 was added to Cerebrovascular disorderspanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory

14 Dec 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

ACVRL1 was created by agardham