Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Disorders of immune dysregulation v0.58 | RIPK1 | Zornitza Stark changed review comment from: Two families reported with mono-allelic variants and an auto inflammatory syndrome, PMID 31827280; to: Two families reported with mono-allelic variants and an auto inflammatory syndrome, PMID 31827280 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Disorders of immune dysregulation v0.58 | RIPK1 | Zornitza Stark Publications for gene: RIPK1 were set to 30026316 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Disorders of immune dysregulation v0.57 | RIPK1 | Zornitza Stark Mode of inheritance for gene: RIPK1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Disorders of immune dysregulation v0.56 | RIPK1 | Zornitza Stark edited their review of gene: RIPK1: Added comment: Two families reported with mono-allelic variants and an auto inflammatory syndrome, PMID 31827280; Changed publications: 30026316, 30591564, 31213653, 31827280; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Disorders of immune dysregulation v0.56 | RIPK1 | Zornitza Stark edited their review of gene: RIPK1: Added comment: Seven further families reported, inflammatory bowel disease/enteropathy common features.; Changed publications: 30026316, 30591564, 31213653 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Disorders of immune dysregulation v0.20 | RIPK1 | Zornitza Stark Marked gene: RIPK1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Disorders of immune dysregulation v0.20 | RIPK1 | Zornitza Stark Gene: ripk1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Disorders of immune dysregulation v0.20 | RIPK1 | Zornitza Stark Classified gene: RIPK1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Disorders of immune dysregulation v0.20 | RIPK1 | Zornitza Stark Gene: ripk1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Disorders of immune dysregulation v0.19 | RIPK1 |
Zornitza Stark gene: RIPK1 was added gene: RIPK1 was added to Disorders of immune dysregulation_MelbourneGenomics_VCGS. Sources: Literature Mode of inheritance for gene: RIPK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RIPK1 were set to 30026316 Phenotypes for gene: RIPK1 were set to Immunodeficiency 57, MIM#618108 Review for gene: RIPK1 was set to GREEN Added comment: Three unrelated families reported. Sources: Literature |