Autoinflammatory Disorders
Gene: SHARPINEnsemblGeneIds (GRCh38): ENSG00000179526
EnsemblGeneIds (GRCh37): ENSG00000179526
OMIM: 611885, Gene2Phenotype
SHARPIN is in 2 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autoinflammation with episodic fever and immune dysregulation, MIM# 620795
Peter McNaughton (Queensland Children's Hospital)
Two unrelated patients with homozygous frameshift variants presenting with:
P1 - recurrent fever, parotitis, joint inflammation, colitis and chronic otitis media necessitating tympanoplasty
P2 - recurrent fever episodes with lymphadenopathy and vomiting every 2–3 weeks.
Extensive functional data and mouse model.
Sources: LiteratureCreated: 15 Apr 2024, 12:26 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
recurrent fever
Publications
- PMID: 38609546
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Autoinflammation with episodic fever and immune dysregulation, MIM# 620795
- OMIM
- 611885
- Clinvar variants
- Variants in SHARPIN
- Penetrance
- None
- Publications
-
- PMID: 38609546
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SHARPIN were changed from Autoinflammatory syndrome, MONDO:0019751, SHARPIN-related to Autoinflammation with episodic fever and immune dysregulation, MIM# 620795
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sharpin has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SHARPIN were changed from recurrent fever to Autoinflammatory syndrome, MONDO:0019751, SHARPIN-related
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sharpin has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Peter McNaughton (Queensland Children's Hospital)gene: SHARPIN was added gene: SHARPIN was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature Mode of inheritance for gene: SHARPIN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SHARPIN were set to PMID: 38609546 Phenotypes for gene: SHARPIN were set to recurrent fever Review for gene: SHARPIN was set to GREEN