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  3. ADAM17
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Autoinflammatory Disorders

Gene: ADAM17

Green List (high evidence)
ADAM17 (ADAM metallopeptidase domain 17)
EnsemblGeneIds (GRCh38): ENSG00000151694
EnsemblGeneIds (GRCh37): ENSG00000151694
OMIM: 603639, Gene2Phenotype
ADAM17 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three families and a mouse model.
Created: 9 Apr 2020, 12:26 a.m. | Last Modified: 9 Apr 2020, 12:26 a.m.
Panel Version: 0.41

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Inflammatory skin and bowel disease, neonatal, 1, MIM# 614328; Recurrent infections

Publications

Created: 9 Apr 2020, 12:26 a.m.
Last Modified: 9 Apr 2020, 12:26 a.m.
Panel version: 0.41

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Inflammatory skin and bowel disease, neonatal, 1, MIM# 614328
  • Recurrent infections
OMIM
603639
Clinvar variants
Variants in ADAM17
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: adam17 has been classified as Green List (High Evidence).

9 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ADAM17 were changed from to Inflammatory skin and bowel disease, neonatal, 1, MIM# 614328; Recurrent infections

9 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ADAM17 were set to

9 Apr 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ADAM17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ADAM17 was added gene: ADAM17 was added to Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: ADAM17 was set to Unknown