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  3. GDF2
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Cerebral vascular malformations

Gene: GDF2

Amber List (moderate evidence)
GDF2 (growth differentiation factor 2)
EnsemblGeneIds (GRCh38): ENSG00000263761
EnsemblGeneIds (GRCh37): ENSG00000128802
OMIM: 605120, Gene2Phenotype
GDF2 is in 4 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Created: 29 Nov 2019, 7:06 p.m.
Last Modified: 29 Nov 2019, 7:06 p.m.
Panel version: 1.67

Ellen Thomas (Genomics England Curator)

Comment on list classification: Reviewed by Claire Shovlin as red on HHT panel; currently left as amber on v1 HHT panel so leave on amber in cerebrovascular disorders panel too.
Created: 19 Dec 2016, 2:25 p.m.
Created: 19 Dec 2016, 2:25 p.m.

Panel version: 0.76

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 5, OMIM:615506
OMIM
605120
Clinvar variants
Variants in GDF2
Penetrance
Complete
Panels with this gene

History Filter Activity

25 Mar 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: GDF2 were changed from to Telangiectasia, hereditary hemorrhagic, type 5, OMIM:615506

29 Nov 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to GDF2.

29 Nov 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to GDF2.

19 Dec 2016, Gel status: 2

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on the 19th December 2016

19 Dec 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

14 Dec 2016, Gel status: 2

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Amber List (Moderate Evidence).

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)

GDF2 was added to Cerebrovascular disorderspanel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen

14 Dec 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

GDF2 was created by agardham