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Inflammatory bowel disease v0.108 ALPI Zornitza Stark Phenotypes for gene: ALPI were changed from Inflammatory bowel disease to Inflammatory bowel disease, MONDO:0005265, ALPI-related
Inflammatory bowel disease v0.107 ALPI Zornitza Stark edited their review of gene: ALPI: Changed phenotypes: Inflammatory bowel disease, MONDO:0005265, ALPI-related
Inflammatory bowel disease v0.40 ALPI Lavvina Thiyagarajan reviewed gene: ALPI: Rating: AMBER; Mode of pathogenicity: None; Publications: 32084423; Phenotypes: Inflammatory bowel disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Inflammatory bowel disease v0.40 ALPI Lavvina Thiyagarajan Deleted their review
Inflammatory bowel disease v0.40 ALPI Lavvina Thiyagarajan changed review comment from: 2 unrelated individuals with inflammatory bowel disease. Some functional evidence. Additional recent publication in 2020 regarding ALPI but no new individuals described.; to: 2 unrelated individuals with inflammatory bowel disease. Some functional evidence. Additional recent publication (PMID: 32084423) in 2020 but no new individuals identified (patient described has previously been reported).
Inflammatory bowel disease v0.40 ALPI Lavvina Thiyagarajan changed review comment from: 3 unrelated individuals with inflammatory bowel disease. Some functional evidence. Additional (3rd) individual described in recent (2020) publication with bi-allelic variants in ALPI.; to: 2 unrelated individuals with inflammatory bowel disease. Some functional evidence. Additional recent publication in 2020 regarding ALPI but no new individuals described.
Inflammatory bowel disease v0.40 ALPI Zornitza Stark Marked gene: ALPI as ready
Inflammatory bowel disease v0.40 ALPI Zornitza Stark Added comment: Comment when marking as ready: Family reported in PMID 32084423 is actually already previously reported.
Inflammatory bowel disease v0.40 ALPI Zornitza Stark Gene: alpi has been classified as Amber List (Moderate Evidence).
Inflammatory bowel disease v0.40 ALPI Zornitza Stark Classified gene: ALPI as Amber List (moderate evidence)
Inflammatory bowel disease v0.40 ALPI Zornitza Stark Gene: alpi has been classified as Amber List (Moderate Evidence).
Inflammatory bowel disease v0.39 ALPI Zornitza Stark Publications for gene: ALPI were set to 29567797
Inflammatory bowel disease v0.38 ALPI Zornitza Stark Classified gene: ALPI as Green List (high evidence)
Inflammatory bowel disease v0.38 ALPI Zornitza Stark Gene: alpi has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.37 ALPI Lavvina Thiyagarajan changed review comment from: 1 individual with clinically diagnosed inflammatory IBD - causal evidence: genetic, functional, pathology (as per paper) - in addition to 2 unrelated individuals from previous review.
; to: 3 unrelated individuals with inflammatory bowel disease. Some functional evidence. Additional (3rd) individual described in recent (2020) publication with bi-allelic variants in ALPI.
Inflammatory bowel disease v0.37 ALPI Lavvina Thiyagarajan changed review comment from: 1 individual with clinically diagnosed inflammatory IBD - causal evidence: genetic, functional, pathology (as per paper); to: 1 individual with clinically diagnosed inflammatory IBD - causal evidence: genetic, functional, pathology (as per paper) - in addition to 2 unrelated individuals from previous review.
Inflammatory bowel disease v0.37 ALPI Lavvina Thiyagarajan reviewed gene: ALPI: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32084423; Phenotypes: Inflammatory bowel disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Inflammatory bowel disease v0.9 ALPI Zornitza Stark Marked gene: ALPI as ready
Inflammatory bowel disease v0.9 ALPI Zornitza Stark Gene: alpi has been classified as Amber List (Moderate Evidence).
Inflammatory bowel disease v0.9 ALPI Zornitza Stark Classified gene: ALPI as Amber List (moderate evidence)
Inflammatory bowel disease v0.9 ALPI Zornitza Stark Gene: alpi has been classified as Amber List (Moderate Evidence).
Inflammatory bowel disease v0.8 ALPI Zornitza Stark gene: ALPI was added
gene: ALPI was added to Inflammatory bowel disease. Sources: Expert list
Mode of inheritance for gene: ALPI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALPI were set to 29567797
Phenotypes for gene: ALPI were set to Inflammatory bowel disease
Review for gene: ALPI was set to AMBER
Added comment: Two unrelated individuals, some functional data.
Sources: Expert list