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Gastrointestinal epithelial barrier disorders v1.74 AICDA Arina Puzriakova Phenotypes for gene: AICDA were changed from Early Onset Inflammatory Bowel Disease; Immunodeficiency with hyper-IgM, type 2 605258 to Immunodeficiency with hyper-IgM, type 2, OMIM:605258
Gastrointestinal epithelial barrier disorders v1.73 SKIV2L Sarah Leigh changed review comment from: The new_gene_name tag has been added. The new name for SKIV2L is SKIC2.; to: Added new-gene-name tag, new approved HGNC gene symbol for SKIV2L is SKIC2.
Gastrointestinal epithelial barrier disorders v1.73 TTC37 Sarah Leigh changed review comment from: The new_gene_name tag has been added. The new name for TTC37 is SKIC3.; to: Added new-gene-name tag, new approved HGNC gene symbol for TTC37 is SKIC3.
Gastrointestinal epithelial barrier disorders v1.73 TTC37 Sarah Leigh Tag new-gene-name tag was added to gene: TTC37.
Gastrointestinal epithelial barrier disorders v1.73 TTC37 Sarah Leigh edited their review of gene: TTC37: Added comment: The new_gene_name tag has been added. The new name for TTC37 is SKIC3.; Changed publications to: 27302973
Gastrointestinal epithelial barrier disorders v1.73 SKIV2L Sarah Leigh Tag new-gene-name tag was added to gene: SKIV2L.
Gastrointestinal epithelial barrier disorders v1.73 SKIV2L Sarah Leigh edited their review of gene: SKIV2L: Added comment: The new_gene_name tag has been added. The new name for SKIV2L is SKIC2.; Changed publications to: 27302973, 22444670
Gastrointestinal epithelial barrier disorders v1.73 SLC37A4 Arina Puzriakova Phenotypes for gene: SLC37A4 were changed from Early Onset Inflammatory Bowel Disease; Inflammatory Bowel Disease (Very Early Onset); Glycogen storage disease type 1b 232220 to Glycogen storage disease Ib, OMIM:232220; Glycogen storage disease Ic, OMIM:232240; Early Onset Inflammatory Bowel Disease
Gastrointestinal epithelial barrier disorders v1.72 EPCAM Arina Puzriakova Phenotypes for gene: EPCAM were changed from Diarrhea 5, with tufting enteropathy, congenital 613217; Diarrhea 5, with tufting enteropathy, congenital; Colorectal cancer, hereditary nonpolyposis, type 8, 613244; Diarrhea 5, with tufting enteropathy, congenital, 613217 to Diarrhea 5, with tufting enteropathy, congenital, OMIM:613217
Gastrointestinal epithelial barrier disorders v1.71 PIK3CD Arina Puzriakova Phenotypes for gene: PIK3CD were changed from to Immunodeficiency 14B, autosomal recessive, OMIM:619281
Gastrointestinal epithelial barrier disorders v1.70 PIK3CD Arina Puzriakova Mode of inheritance for gene: PIK3CD was changed from to BIALLELIC, autosomal or pseudoautosomal
Gastrointestinal epithelial barrier disorders v1.69 PLCG2 Arina Puzriakova Phenotypes for gene: PLCG2 were changed from Inflammatory Bowel Disease (Very Early Onset) to Autoinflammation, antibody deficiency, and immune dysregulation syndrome, OMIM:614878
Gastrointestinal epithelial barrier disorders v1.68 OTULIN Arina Puzriakova Phenotypes for gene: OTULIN were changed from to Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099
Gastrointestinal epithelial barrier disorders v1.67 NOD2 Arina Puzriakova Phenotypes for gene: NOD2 were changed from {Inflammatory bowel disease 1, Crohn disease}; Crohn disease; Crohn Disease to {Inflammatory bowel disease 1, Crohn disease}, OMIM:266600; {Yao syndrome}, OMIM:617321
Gastrointestinal epithelial barrier disorders v1.66 NLRC4 Arina Puzriakova Phenotypes for gene: NLRC4 were changed from Autoinflammation with infantile enterocolitis, 616050 to Autoinflammation with infantile enterocolitis, OMIM:616050
Gastrointestinal epithelial barrier disorders v1.65 MVK Arina Puzriakova Phenotypes for gene: MVK were changed from Early Onset Inflammatory Bowel Disease; Hyper-IgD syndrome 260920; Mevalonic aciduria 610377 to Hyper-IgD syndrome, OMIM:260920; Mevalonic aciduria, OMIM:610377
Gastrointestinal epithelial barrier disorders v1.64 MEFV Arina Puzriakova Phenotypes for gene: MEFV were changed from Early Onset Inflammatory Bowel Disease; Familial Mediterranean fever, AD 134610; Familial Mediterranean fever, AR 249100 to Familial Mediterranean fever, AD, OMIM:134610; Familial Mediterranean fever, AR, OMIM:249100; Early Onset Inflammatory Bowel Disease
Gastrointestinal epithelial barrier disorders v1.63 MYO5B Arina Puzriakova Phenotypes for gene: MYO5B were changed from Microvillus inclusion disease 251850; Microvillus inclusion disease to Diarrhea 2, with microvillus atrophy, OMIM:251850
Gastrointestinal epithelial barrier disorders v1.62 COL7A1 Arina Puzriakova Publications for gene: COL7A1 were set to
Gastrointestinal epithelial barrier disorders v1.61 XIAP Ivone Leong Publications for gene: XIAP were set to 21173700; 17080092; 27537055
Gastrointestinal epithelial barrier disorders v1.60 XIAP Ivone Leong reviewed gene: XIAP: Rating: ; Mode of pathogenicity: None; Publications: 32686289, 25943627, 24942515, 29501442; Phenotypes: ; Mode of inheritance: None
Gastrointestinal epithelial barrier disorders v1.60 ANO1 Arina Puzriakova Classified gene: ANO1 as Amber List (moderate evidence)
Gastrointestinal epithelial barrier disorders v1.60 ANO1 Arina Puzriakova Added comment: Comment on list classification: Rating Amber, awaiting further cases and review of phenotype associated with variants in this gene.
Gastrointestinal epithelial barrier disorders v1.60 ANO1 Arina Puzriakova Gene: ano1 has been classified as Amber List (Moderate Evidence).
Gastrointestinal epithelial barrier disorders v1.59 ANO1 Zornitza Stark gene: ANO1 was added
gene: ANO1 was added to Gastrointestinal epithelial barrier disorders. Sources: Literature
Mode of inheritance for gene: ANO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANO1 were set to 32487539
Phenotypes for gene: ANO1 were set to Impaired intestinal peristalsis; haemorrhagic diarrhoea; dysmorphic features
Review for gene: ANO1 was set to AMBER
Added comment: PMID: 32487539 (2020) - Two affected sibs presenting in early infancy with impaired intestinal peristalsis, intestinal pneumatosis and dysmorphic features. Delayed motor and language development was reported in one sibling, however, the other sibling died at 5 months from cardiac arrest and therefore a psychomotor assessment was not performed. Exome sequencing identified a homozygous truncating variant (c.897+3_897+6delAAGT, p.L300Vfs*58) in ANO1 which segregated with disease in the family. Functional data revealed that the variant led to lack of expression of functional TMEM16A in patient cells, which in turn abolished calcium-activated Cl- currents. Also supportive mouse model.
Sources: Literature
Gastrointestinal epithelial barrier disorders EPCAM Olivia Niblock classified EPCAM as Green List (high evidence)
Gastrointestinal epithelial barrier disorders ZAP70 Olivia Niblock classified ZAP70 as Amber List (moderate evidence)
Gastrointestinal epithelial barrier disorders MEFV Olivia Niblock classified MEFV as Green List (high evidence)
Gastrointestinal epithelial barrier disorders SLC37A4 Olivia Niblock classified SLC37A4 as Green List (high evidence)
Gastrointestinal epithelial barrier disorders STAT3 Olivia Niblock classified STAT3 as Green List (high evidence)
Gastrointestinal epithelial barrier disorders RET Olivia Niblock classified RET as Amber List (moderate evidence)
Gastrointestinal epithelial barrier disorders NOD2 Olivia Niblock classified NOD2 as Amber List (moderate evidence)
Gastrointestinal epithelial barrier disorders DCLRE1C Olivia Niblock classified DCLRE1C as Green List (high evidence)
Gastrointestinal epithelial barrier disorders DOCK8 Olivia Niblock classified DOCK8 as Green List (high evidence)
Gastrointestinal epithelial barrier disorders FOXP3 Olivia Niblock classified FOXP3 as Green List (high evidence)
Gastrointestinal epithelial barrier disorders HPS1 Olivia Niblock classified HPS1 as Green List (high evidence)
Gastrointestinal epithelial barrier disorders HPS6 Olivia Niblock classified HPS6 as Green List (high evidence)
Gastrointestinal epithelial barrier disorders ICOS Olivia Niblock classified ICOS as Green List (high evidence)
Gastrointestinal epithelial barrier disorders IL2RA Olivia Niblock classified IL2RA as Green List (high evidence)
Gastrointestinal epithelial barrier disorders MVK Olivia Niblock classified MVK as Green List (high evidence)
Gastrointestinal epithelial barrier disorders OTULIN Olivia Niblock classified OTULIN as Green List (high evidence)
Gastrointestinal epithelial barrier disorders RAG2 Olivia Niblock classified RAG2 as Green List (high evidence)
Gastrointestinal epithelial barrier disorders SH2D1A Olivia Niblock classified SH2D1A as Green List (high evidence)
Gastrointestinal epithelial barrier disorders STXBP2 Olivia Niblock classified STXBP2 as Green List (high evidence)
Gastrointestinal epithelial barrier disorders TTC7A Olivia Niblock classified TTC7A as Green List (high evidence)
Gastrointestinal epithelial barrier disorders XIAP Olivia Niblock classified XIAP as Green List (high evidence)
Gastrointestinal epithelial barrier disorders SAMD9 Olivia Niblock classified SAMD9 as Green List (high evidence)
Gastrointestinal epithelial barrier disorders WAS Olivia Niblock classified WAS as Green List (high evidence)
Gastrointestinal epithelial barrier disorders WAS Olivia Niblock classified WAS as Amber List (moderate evidence)
Gastrointestinal epithelial barrier disorders RAG1 Olivia Niblock classified RAG1 as Green List (high evidence)
Gastrointestinal epithelial barrier disorders PLCG2 Olivia Niblock classified PLCG2 as Amber List (moderate evidence)
Gastrointestinal epithelial barrier disorders PIK3R1 Olivia Niblock classified PIK3R1 as Amber List (moderate evidence)
Gastrointestinal epithelial barrier disorders NCF1 Olivia Niblock classified NCF1 as Green List (high evidence)
Gastrointestinal epithelial barrier disorders IL2RG Olivia Niblock classified IL2RG as Green List (high evidence)
Gastrointestinal epithelial barrier disorders IL10 Olivia Niblock classified IL10 as Green List (high evidence)
Gastrointestinal epithelial barrier disorders IL10 Olivia Niblock classified IL10 as Amber List (moderate evidence)
Gastrointestinal epithelial barrier disorders IKBKG Olivia Niblock classified IKBKG as Amber List (moderate evidence)
Gastrointestinal epithelial barrier disorders IKBKG Olivia Niblock classified IKBKG as Amber List (moderate evidence)
Gastrointestinal epithelial barrier disorders HPS4 Olivia Niblock classified HPS4 as Green List (high evidence)
Gastrointestinal epithelial barrier disorders GUCY2C Olivia Niblock classified GUCY2C as Green List (high evidence)
Gastrointestinal epithelial barrier disorders CYBB Olivia Niblock classified CYBB as Green List (high evidence)
Gastrointestinal epithelial barrier disorders CYBA Olivia Niblock classified CYBA as Green List (high evidence)
Gastrointestinal epithelial barrier disorders CD40LG Olivia Niblock classified CD40LG as Green List (high evidence)
Gastrointestinal epithelial barrier disorders CTLA4 Olivia Niblock classified CTLA4 as Green List (high evidence)
Gastrointestinal epithelial barrier disorders Olivia Niblock promoted panel to version 1.0
Gastrointestinal epithelial barrier disorders NCF4 Olivia Niblock marked gene: NCF4 as ready
Gastrointestinal epithelial barrier disorders NCF2 Olivia Niblock marked gene: NCF2 as ready
Gastrointestinal epithelial barrier disorders LRBA Olivia Niblock marked gene: LRBA as ready
Gastrointestinal epithelial barrier disorders EPCAM Olivia Niblock marked gene: EPCAM as ready
Gastrointestinal epithelial barrier disorders ADAM17 Olivia Niblock marked gene: ADAM17 as ready
Gastrointestinal epithelial barrier disorders ADA Olivia Niblock marked gene: ADA as ready
Gastrointestinal epithelial barrier disorders TTC37 Olivia Niblock marked gene: TTC37 as ready
Gastrointestinal epithelial barrier disorders SKIV2L Olivia Niblock marked gene: SKIV2L as ready
Gastrointestinal epithelial barrier disorders MYO5B Olivia Niblock marked gene: MYO5B as ready
Gastrointestinal epithelial barrier disorders IL10RB Olivia Niblock marked gene: IL10RB as ready
Gastrointestinal epithelial barrier disorders IL10RA Olivia Niblock marked gene: IL10RA as ready
Gastrointestinal epithelial barrier disorders STAT1 Olivia Niblock classified STAT1 as Amber List (moderate evidence)
Gastrointestinal epithelial barrier disorders SHANK3 Olivia Niblock classified SHANK3 as Red List (low evidence)
Gastrointestinal epithelial barrier disorders TGFBR2 Olivia Niblock classified TGFBR2 as Red List (low evidence)
Gastrointestinal epithelial barrier disorders TGFBR1 Olivia Niblock classified TGFBR1 as Red List (low evidence)
Gastrointestinal epithelial barrier disorders RTEL1 Olivia Niblock classified RTEL1 as Green List (high evidence)
Gastrointestinal epithelial barrier disorders PTEN Olivia Niblock classified PTEN as Amber List (moderate evidence)
Gastrointestinal epithelial barrier disorders PIK3CD Olivia Niblock classified PIK3CD as Amber List (moderate evidence)
Gastrointestinal epithelial barrier disorders MYO9B Olivia Niblock classified MYO9B as Red List (low evidence)
Gastrointestinal epithelial barrier disorders LIG4 Olivia Niblock classified LIG4 as Amber List (moderate evidence)
Gastrointestinal epithelial barrier disorders ITGB2 Olivia Niblock classified ITGB2 as Amber List (moderate evidence)
Gastrointestinal epithelial barrier disorders G6PC3 Olivia Niblock classified G6PC3 as Red List (low evidence)
Gastrointestinal epithelial barrier disorders FERMT1 Olivia Niblock classified FERMT1 as Amber List (moderate evidence)
Gastrointestinal epithelial barrier disorders COL7A1 Olivia Niblock classified COL7A1 as Amber List (moderate evidence)
Gastrointestinal epithelial barrier disorders WAS Ellen McDonagh commented on WAS
Gastrointestinal epithelial barrier disorders TYK2 Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders SLC22A5 Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders SLC22A4 Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders PTPN2 Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders NOD2 Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders NLRC4 Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders MUC2 Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders LRRK2 Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders JAK2 Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders IRF5 Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders IL6 Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders IL23R Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders IL12B Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders HLA-DRB1 Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders ATG16L1 Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders ABCB1 Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders SHANK3 Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders HLA-DQA1 Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders TGFBR2 Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders TGFBR1 Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders STAT3 Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders STAT1 Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders SAMD9 Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders RTEL1 Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders RAG1 Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders PTEN Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders PIK3CD Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders OTULIN Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders LIG4 Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders ITGB2 Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders G6PC3 Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders DOCK8 Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders CTLA4 Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders COL7A1 Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders CD3G Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders ZAP70 Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders RET Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders RAG2 Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders PLCG2 Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders PIK3R1 Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders NCF1 Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders IL2RG Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders IL10 Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders IRGM Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders IL10RB Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders XIAP Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders WAS Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders STXBP2 Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders SLC37A4 Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders SH2D1A Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders NCF4 Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders NCF2 Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders MVK Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders MEFV Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders LRBA Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders IL2RA Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders IL10RA Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders ICOS Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders HPS6 Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders HPS4 Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders HPS1 Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders FOXP3 Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders DCLRE1C Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders CYBB Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders CYBA Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders CD40LG Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders BTK Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders AICDA Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders TTC37 Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders SKIV2L Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders FERMT1 Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders SLC9A3 Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders GUCY2C Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders TTC7A Olivia Niblock Added gene to panel
Gastrointestinal epithelial barrier disorders PARD3 Olivia Niblock edited their review of PARD3
Gastrointestinal epithelial barrier disorders MAGI2 Olivia Niblock added MAGI2 to panel
Gastrointestinal epithelial barrier disorders MAGI2 Olivia Niblock reviewed MAGI2
Gastrointestinal epithelial barrier disorders PARD3 Olivia Niblock added PARD3 to panel
Gastrointestinal epithelial barrier disorders PARD3 Olivia Niblock reviewed PARD3
Gastrointestinal epithelial barrier disorders MYO9B Olivia Niblock added MYO9B to panel
Gastrointestinal epithelial barrier disorders MYO9B Olivia Niblock reviewed MYO9B
Gastrointestinal epithelial barrier disorders IKBKG Sarah Leigh added IKBKG to panel
Gastrointestinal epithelial barrier disorders IKBKG Sarah Leigh reviewed IKBKG
Gastrointestinal epithelial barrier disorders ADAM17 Sarah Leigh added ADAM17 to panel
Gastrointestinal epithelial barrier disorders ADAM17 Sarah Leigh reviewed ADAM17
Gastrointestinal epithelial barrier disorders MYO5B Sarah Leigh added MYO5B to panel
Gastrointestinal epithelial barrier disorders MYO5B Sarah Leigh reviewed MYO5B
Gastrointestinal epithelial barrier disorders EPCAM Sarah Leigh added EPCAM to panel
Gastrointestinal epithelial barrier disorders EPCAM Sarah Leigh reviewed EPCAM