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Cerebral vascular malformations

Gene: IL6

Red List (low evidence)
IL6 (interleukin 6)
EnsemblGeneIds (GRCh38): ENSG00000136244
EnsemblGeneIds (GRCh37): ENSG00000136244
OMIM: 147620, Gene2Phenotype
IL6 is in 6 panels

1 review

Alice Gardham (Genomics England)

Red List (low evidence)

IL6 promotor polymorphism increases risk of haemorrhage in individuals with arteriovenous malformations
Created: 12 Dec 2016, 4:03 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to, 108010

Publications

Created: 12 Dec 2016, 4:03 p.m.

Panel version: 0.23

Details

Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review Red
  • Other
Phenotypes
  • {Intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to}
OMIM
147620
Clinvar variants
Variants in IL6
Penetrance
Complete
Panels with this gene

History Filter Activity

29 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to IL6.

29 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to IL6.

19 Dec 2016, Gel status: 1

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on the 19th December 2016

12 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

9 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

IL6 was added to Cerebrovascular disorderspanel. Sources: Other

9 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

IL6 was created by ellenmcdonagh