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Pancreatitis v2.0 CLDN2 Gene migrated from ENSG00000165376 to ENSG00000165376 (gene set migration)
Pancreatitis v2.0 CELA3B Gene migrated from ENSG00000219073 to ENSG00000219073 (gene set migration)
Pancreatitis v2.0 CASR Gene migrated from ENSG00000036828 to ENSG00000036828 (gene set migration)
Pancreatitis v2.0 CTRC Gene migrated from ENSG00000162438 to ENSG00000162438 (gene set migration)
Pancreatitis v2.0 SPINK1 Gene migrated from ENSG00000164266 to ENSG00000164266 (gene set migration)
Pancreatitis v2.0 PRSS1 Gene migrated from ENSG00000204983 to ENSG00000204983 (gene set migration)
Pancreatitis v2.0 CFTR Gene migrated from ENSG00000001626 to ENSG00000001626 (gene set migration)
Pancreatitis v2.0 CPA1 Gene migrated from ENSG00000091704 to ENSG00000091704 (gene set migration)
Pancreatitis v2.0 TRPV6 Gene migrated from ENSG00000165125 to ENSG00000165125 (gene set migration)
Pancreatitis v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.6
Pancreatitis v1.6 CLDN2 Zornitza Stark Classified gene: CLDN2 as Red List (low evidence)
Pancreatitis v1.6 CLDN2 Zornitza Stark Gene: cldn2 has been classified as Red List (Low Evidence).
Pancreatitis v1.5 CLDN2 Zornitza Stark edited their review of gene: CLDN2: Changed rating: RED
Pancreatitis v1.5 CPA1 Zornitza Stark Phenotypes for gene: CPA1 were changed from Susceptibility to chronic pancreatitis; Hereditary pancreatitis to Hereditary pancreatitis, MONDO:0008185, CPA1-related
Pancreatitis v1.4 CPA1 Zornitza Stark edited their review of gene: CPA1: Changed phenotypes: Hereditary pancreatitis, MONDO:0008185, CPA1-related
Pancreatitis v1.4 Zornitza Stark HPO terms changed from to Pancreatitis, HP:0001733
List of related panels changed from to Pancreatitis; HP:0001733
Pancreatitis v1.3 CELA3B Bryony Thompson Marked gene: CELA3B as ready
Pancreatitis v1.3 CELA3B Bryony Thompson Gene: cela3b has been classified as Amber List (Moderate Evidence).
Pancreatitis v1.3 CELA3B Bryony Thompson Classified gene: CELA3B as Amber List (moderate evidence)
Pancreatitis v1.3 CELA3B Bryony Thompson Gene: cela3b has been classified as Amber List (Moderate Evidence).
Pancreatitis v1.2 CELA3B Bryony Thompson gene: CELA3B was added
gene: CELA3B was added to Pancreatitis. Sources: Literature
Mode of inheritance for gene: CELA3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CELA3B were set to 31369399; 33565216
Phenotypes for gene: CELA3B were set to Chronic pancreatitis
Mode of pathogenicity for gene: CELA3B was set to Other
Review for gene: CELA3B was set to AMBER
Added comment: PMID: 33565216 - p.Arg90Cys (c.268C>T) identified in a chronic pancreatitis (also diabetes and pancreatic adenocarcinoma present in some individuals) pedigree. Variant was present in 2 affected individuals and not present in 7 healthy relatives. Also, supporting in vitro functional assays demonstrating gain of function mechanism for R90C and R90L, and supporting mouse model. PMID: 31369399 - p.Arg90Leu (c.269G>T) identified in 4 French chronic pancreatitis cases and 0 controls. However, there are 229 hets in gnomAD v2.1 with this variant.
Sources: Literature
Pancreatitis v1.1 CLDN2 Zornitza Stark edited their review of gene: CLDN2: Added comment: Azoospermia: single multigenerational family reported.; Changed publications: 29884332, 31163246, 31320686; Changed phenotypes: Susceptibility to pancreatitis, Azoospermia, obstructive, with nephrolithiasis, MIM# 301060; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pancreatitis v1.1 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Pancreatitis v1.0 Zornitza Stark promoted panel to version 1.0
Pancreatitis v0.28 TRPV6 Bryony Thompson changed review comment from: Two studies identified a significant over-representation of loss of function mainly missense variants in chronic pancreatitis cases compared to controls in Japanese, European, and Chinese cohorts. There was also a supporting mouse model.
Sources: Literature; to: Two studies identified a significant over-representation of loss of function, mainly missense variants (tested in in vitro functional assays) in chronic pancreatitis cases compared to controls in Japanese, European, and Chinese cohorts. There was also a supporting mouse model.
Sources: Literature
Pancreatitis v0.28 TRPV6 Bryony Thompson Marked gene: TRPV6 as ready
Pancreatitis v0.28 TRPV6 Bryony Thompson Gene: trpv6 has been classified as Green List (High Evidence).
Pancreatitis v0.28 TRPV6 Bryony Thompson Classified gene: TRPV6 as Green List (high evidence)
Pancreatitis v0.28 TRPV6 Bryony Thompson Gene: trpv6 has been classified as Green List (High Evidence).
Pancreatitis v0.27 TRPV6 Bryony Thompson gene: TRPV6 was added
gene: TRPV6 was added to Pancreatitis. Sources: Literature
Mode of inheritance for gene: TRPV6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRPV6 were set to 32383311; 31930989
Phenotypes for gene: TRPV6 were set to Early onset chronic pancreatitis susceptibility
Review for gene: TRPV6 was set to GREEN
Added comment: Two studies identified a significant over-representation of loss of function mainly missense variants in chronic pancreatitis cases compared to controls in Japanese, European, and Chinese cohorts. There was also a supporting mouse model.
Sources: Literature
Pancreatitis v0.25 SPINK1 Zornitza Stark Marked gene: SPINK1 as ready
Pancreatitis v0.25 SPINK1 Zornitza Stark Gene: spink1 has been classified as Green List (High Evidence).
Pancreatitis v0.25 SPINK1 Zornitza Stark Phenotypes for gene: SPINK1 were changed from to Tropical calcific pancreatitis, MIM# 608189; Pancreatitis, hereditary, MIM# 167800
Pancreatitis v0.24 SPINK1 Zornitza Stark Publications for gene: SPINK1 were set to
Pancreatitis v0.23 SPINK1 Zornitza Stark Mode of inheritance for gene: SPINK1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pancreatitis v0.22 SPINK1 Zornitza Stark reviewed gene: SPINK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10835640, 11355022, 11938439, 16823394, 17274009, 27535533; Phenotypes: Tropical calcific pancreatitis, MIM# 608189, Pancreatitis, hereditary, MIM# 167800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pancreatitis v0.22 PRSS1 Zornitza Stark Marked gene: PRSS1 as ready
Pancreatitis v0.22 PRSS1 Zornitza Stark Gene: prss1 has been classified as Green List (High Evidence).
Pancreatitis v0.22 PRSS1 Zornitza Stark Phenotypes for gene: PRSS1 were changed from to Pancreatitis, hereditary, MIM# 167800
Pancreatitis v0.21 PRSS1 Zornitza Stark Publications for gene: PRSS1 were set to
Pancreatitis v0.20 PRSS1 Zornitza Stark Mode of inheritance for gene: PRSS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pancreatitis v0.19 PRSS1 Zornitza Stark reviewed gene: PRSS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8841182, 10204851, 10529393, 11097832, 11702203, 15776435, 16791840, 18461367, 17072318; Phenotypes: Pancreatitis, hereditary, MIM# 167800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pancreatitis v0.19 CFTR Zornitza Stark Marked gene: CFTR as ready
Pancreatitis v0.19 CFTR Zornitza Stark Gene: cftr has been classified as Green List (High Evidence).
Pancreatitis v0.19 CFTR Zornitza Stark Phenotypes for gene: CFTR were changed from to Cystic fibrosis
Pancreatitis v0.18 CFTR Zornitza Stark Mode of inheritance for gene: CFTR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Pancreatitis v0.17 CFTR Zornitza Stark reviewed gene: CFTR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cystic fibrosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pancreatitis v0.17 CTRC Zornitza Stark Marked gene: CTRC as ready
Pancreatitis v0.17 CTRC Zornitza Stark Gene: ctrc has been classified as Amber List (Moderate Evidence).
Pancreatitis v0.17 CTRC Zornitza Stark Phenotypes for gene: CTRC were changed from to {Pancreatitis, chronic, susceptibility to}, MIM#167800
Pancreatitis v0.16 CTRC Zornitza Stark Publications for gene: CTRC were set to
Pancreatitis v0.15 CTRC Zornitza Stark Mode of inheritance for gene: CTRC was changed from Unknown to Other
Pancreatitis v0.14 CTRC Zornitza Stark Classified gene: CTRC as Amber List (moderate evidence)
Pancreatitis v0.14 CTRC Zornitza Stark Gene: ctrc has been classified as Amber List (Moderate Evidence).
Pancreatitis v0.13 CTRC Zornitza Stark reviewed gene: CTRC: Rating: AMBER; Mode of pathogenicity: None; Publications: 18059268, 18172691, 28502372; Phenotypes: {Pancreatitis, chronic, susceptibility to}, MIM#167800; Mode of inheritance: Other
Pancreatitis v0.13 CPA1 Zornitza Stark Marked gene: CPA1 as ready
Pancreatitis v0.13 CPA1 Zornitza Stark Gene: cpa1 has been classified as Green List (High Evidence).
Pancreatitis v0.13 CPA1 Zornitza Stark Phenotypes for gene: CPA1 were changed from to Susceptibility to chronic pancreatitis; Hereditary pancreatitis
Pancreatitis v0.12 CPA1 Zornitza Stark Publications for gene: CPA1 were set to
Pancreatitis v0.11 CPA1 Zornitza Stark Mode of inheritance for gene: CPA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pancreatitis v0.10 CPA1 Zornitza Stark reviewed gene: CPA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23955596, 28497564, 28258133, 31005883; Phenotypes: Susceptibility to chronic pancreatitis, Hereditary pancreatitis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pancreatitis v0.10 CLDN2 Zornitza Stark Marked gene: CLDN2 as ready
Pancreatitis v0.10 CLDN2 Zornitza Stark Gene: cldn2 has been classified as Amber List (Moderate Evidence).
Pancreatitis v0.10 CLDN2 Zornitza Stark Phenotypes for gene: CLDN2 were changed from to Susceptibility to pancreatitis
Pancreatitis v0.9 CLDN2 Zornitza Stark Publications for gene: CLDN2 were set to
Pancreatitis v0.8 CLDN2 Zornitza Stark Mode of inheritance for gene: CLDN2 was changed from Unknown to Other
Pancreatitis v0.7 CLDN2 Zornitza Stark Classified gene: CLDN2 as Amber List (moderate evidence)
Pancreatitis v0.7 CLDN2 Zornitza Stark Gene: cldn2 has been classified as Amber List (Moderate Evidence).
Pancreatitis v0.6 CLDN2 Zornitza Stark reviewed gene: CLDN2: Rating: AMBER; Mode of pathogenicity: None; Publications: 29884332, 31163246; Phenotypes: Susceptibility to pancreatitis; Mode of inheritance: Other
Pancreatitis v0.6 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Pancreatitis v0.5 CASR Zornitza Stark Marked gene: CASR as ready
Pancreatitis v0.5 CASR Zornitza Stark Gene: casr has been classified as Amber List (Moderate Evidence).
Pancreatitis v0.5 CASR Zornitza Stark Phenotypes for gene: CASR were changed from to Susceptibility to pancreatitis
Pancreatitis v0.4 CASR Zornitza Stark Publications for gene: CASR were set to
Pancreatitis v0.3 CASR Zornitza Stark Mode of inheritance for gene: CASR was changed from Unknown to Other
Pancreatitis v0.2 CASR Zornitza Stark Classified gene: CASR as Amber List (moderate evidence)
Pancreatitis v0.2 CASR Zornitza Stark Gene: casr has been classified as Amber List (Moderate Evidence).
Pancreatitis v0.1 CASR Zornitza Stark reviewed gene: CASR: Rating: AMBER; Mode of pathogenicity: None; Publications: 16497624, 26166472; Phenotypes: Susceptibility to pancreatitis; Mode of inheritance: Other
Pancreatitis v0.1 Zornitza Stark Panel name changed from Pancreatitis_VCGS to Pancreatitis
Panel types changed to Victorian Clinical Genetics Services
Pancreatitis v0.0 SPINK1 Zornitza Stark gene: SPINK1 was added
gene: SPINK1 was added to Pancreatitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SPINK1 was set to Unknown
Pancreatitis v0.0 PRSS1 Zornitza Stark gene: PRSS1 was added
gene: PRSS1 was added to Pancreatitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PRSS1 was set to Unknown
Pancreatitis v0.0 CTRC Zornitza Stark gene: CTRC was added
gene: CTRC was added to Pancreatitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CTRC was set to Unknown
Pancreatitis v0.0 CPA1 Zornitza Stark gene: CPA1 was added
gene: CPA1 was added to Pancreatitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CPA1 was set to Unknown
Pancreatitis v0.0 CLDN2 Zornitza Stark gene: CLDN2 was added
gene: CLDN2 was added to Pancreatitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CLDN2 was set to Unknown
Pancreatitis v0.0 CFTR Zornitza Stark gene: CFTR was added
gene: CFTR was added to Pancreatitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CFTR was set to Unknown
Pancreatitis v0.0 CASR Zornitza Stark gene: CASR was added
gene: CASR was added to Pancreatitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CASR was set to Unknown
Pancreatitis v0.0 Zornitza Stark Added panel Pancreatitis_VCGS