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Intestinal failure or congenital diarrhoea v3.1 Sarah Leigh Panel version 3.0 has been signed off on 2023-03-22
Intestinal failure or congenital diarrhoea v3.0 Sarah Leigh promoted panel to version 3.0
Intestinal failure or congenital diarrhoea v2.3 AGR2 Achchuthan Shanmugasundram Tag Q1_22_rating was removed from gene: AGR2.
Intestinal failure or congenital diarrhoea v2.3 AGR2 Achchuthan Shanmugasundram reviewed gene: AGR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intestinal failure or congenital diarrhoea v2.2 AGR2 Achchuthan Shanmugasundram Source Expert Review Green was added to AGR2.
Source NHS GMS was added to AGR2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intestinal failure or congenital diarrhoea v2.1 Arina Puzriakova Panel version 2.0 has been signed off on 2022-11-30
Intestinal failure or congenital diarrhoea v2.0 Arina Puzriakova promoted panel to version 2.0
Intestinal failure or congenital diarrhoea v1.51 Arina Puzriakova Panel name changed from Intestinal failure to Intestinal failure or congenital diarrhoea
List of related panels changed from R331 to R331; Intestinal failure
Intestinal failure or congenital diarrhoea v1.50 PCSK1 Sarah Leigh Phenotypes for gene: PCSK1 were changed from Obesity with impaired prohormone processing, OMIM:600955 to Obesity with impaired prohormone processing, OMIM:600955; obesity due to prohormone convertase I deficiency, MONDO:0010961; {Obesity, susceptibility to, BMIQ12},OMIM:612362
Intestinal failure or congenital diarrhoea v1.49 PCSK1 Sarah Leigh Publications for gene: PCSK1 were set to
Intestinal failure or congenital diarrhoea v1.48 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.
Intestinal failure or congenital diarrhoea v1.48 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.
Intestinal failure or congenital diarrhoea v1.48 TTC37 Sarah Leigh Tag new-gene-name tag was added to gene: TTC37.
Intestinal failure or congenital diarrhoea v1.48 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
Intestinal failure or congenital diarrhoea v1.48 SKIV2L Sarah Leigh Tag new-gene-name tag was added to gene: SKIV2L.
Intestinal failure or congenital diarrhoea v1.48 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
Intestinal failure or congenital diarrhoea v1.48 TMPRSS15 Ivone Leong Tag Q2_21_rating was removed from gene: TMPRSS15.
Intestinal failure or congenital diarrhoea v1.48 WNT2B Ivone Leong Tag Q2_21_rating was removed from gene: WNT2B.
Intestinal failure or congenital diarrhoea v1.48 PLVAP Ivone Leong Tag Q2_21_rating was removed from gene: PLVAP.
Intestinal failure or congenital diarrhoea v1.48 NEUROG3 Ivone Leong Tag Q2_21_rating was removed from gene: NEUROG3.
Intestinal failure or congenital diarrhoea v1.48 AP1S1 Ivone Leong Tag Q2_21_rating was removed from gene: AP1S1.
Intestinal failure or congenital diarrhoea v1.48 XIAP Eleanor Williams commented on gene: XIAP: This gene has previously been called BIRC4
Intestinal failure or congenital diarrhoea v1.48 XIAP Eleanor Williams commented on gene: XIAP
Intestinal failure or congenital diarrhoea v1.48 WNT2B Eleanor Williams commented on gene: WNT2B
Intestinal failure or congenital diarrhoea v1.48 TTC7A Eleanor Williams commented on gene: TTC7A
Intestinal failure or congenital diarrhoea v1.48 TTC37 Eleanor Williams commented on gene: TTC37
Intestinal failure or congenital diarrhoea v1.48 TMPRSS15 Eleanor Williams commented on gene: TMPRSS15
Intestinal failure or congenital diarrhoea v1.48 TERT Eleanor Williams commented on gene: TERT
Intestinal failure or congenital diarrhoea v1.48 STXBP2 Eleanor Williams commented on gene: STXBP2
Intestinal failure or congenital diarrhoea v1.48 STX3 Eleanor Williams commented on gene: STX3
Intestinal failure or congenital diarrhoea v1.48 SPINT2 Eleanor Williams commented on gene: SPINT2
Intestinal failure or congenital diarrhoea v1.48 SLC9A3 Eleanor Williams commented on gene: SLC9A3
Intestinal failure or congenital diarrhoea v1.48 SLC5A1 Eleanor Williams commented on gene: SLC5A1
Intestinal failure or congenital diarrhoea v1.48 SLC39A4 Eleanor Williams commented on gene: SLC39A4
Intestinal failure or congenital diarrhoea v1.48 SLC26A3 Eleanor Williams commented on gene: SLC26A3
Intestinal failure or congenital diarrhoea v1.48 SLC10A2 Eleanor Williams commented on gene: SLC10A2: This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.
Intestinal failure or congenital diarrhoea v1.48 SLC10A2 Eleanor Williams commented on gene: SLC10A2
Intestinal failure or congenital diarrhoea v1.48 SKIV2L Eleanor Williams commented on gene: SKIV2L
Intestinal failure or congenital diarrhoea v1.48 SI Eleanor Williams commented on gene: SI
Intestinal failure or congenital diarrhoea v1.48 SAR1B Eleanor Williams commented on gene: SAR1B
Intestinal failure or congenital diarrhoea v1.48 RFX6 Eleanor Williams commented on gene: RFX6
Intestinal failure or congenital diarrhoea v1.48 PLVAP Eleanor Williams commented on gene: PLVAP
Intestinal failure or congenital diarrhoea v1.48 PCSK1 Eleanor Williams commented on gene: PCSK1: Two patients reported in PMID: 9207799 and PMID: 14617756 are reported to have PC1 deficiency with a obesity, hypoadrenalism, reactive hypoglycemia, and elevated circulating levels of certain prohormones phenotype. The second patient (PMID: 14617756) had severe refractory neonatal diarrhea, malabsorptive in type and re-investigation of the first patient showed marked small-intestinal absorptive dysfunction. Both patients were found to have compound heterozygous protein altering variants in PC1 (now known as PCSK1). PMID: 17595246 - report a 3rd individual who was homozygous for a novel missense mutation Ser307Leu in PCSK1 who presented with obesity and persistent diarrhea.
Intestinal failure or congenital diarrhoea v1.48 PCSK1 Eleanor Williams commented on gene: PCSK1
Intestinal failure or congenital diarrhoea v1.48 NEUROG3 Eleanor Williams commented on gene: NEUROG3
Intestinal failure or congenital diarrhoea v1.48 MYO5B Eleanor Williams commented on gene: MYO5B
Intestinal failure or congenital diarrhoea v1.48 MTTP Eleanor Williams commented on gene: MTTP: This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.
Intestinal failure or congenital diarrhoea v1.48 MTTP Eleanor Williams commented on gene: MTTP
Intestinal failure or congenital diarrhoea v1.48 LRBA Eleanor Williams commented on gene: LRBA
Intestinal failure or congenital diarrhoea v1.48 LCT Eleanor Williams commented on gene: LCT
Intestinal failure or congenital diarrhoea v1.48 KMT2D Eleanor Williams commented on gene: KMT2D: This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.
Intestinal failure or congenital diarrhoea v1.48 KMT2D Eleanor Williams commented on gene: KMT2D
Intestinal failure or congenital diarrhoea v1.48 ICOS Eleanor Williams commented on gene: ICOS
Intestinal failure or congenital diarrhoea v1.48 GUCY2C Eleanor Williams commented on gene: GUCY2C
Intestinal failure or congenital diarrhoea v1.48 FOXP3 Eleanor Williams commented on gene: FOXP3
Intestinal failure or congenital diarrhoea v1.48 FAT4 Eleanor Williams commented on gene: FAT4: This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.
Intestinal failure or congenital diarrhoea v1.48 FAT4 Eleanor Williams commented on gene: FAT4
Intestinal failure or congenital diarrhoea v1.48 EPCAM Eleanor Williams commented on gene: EPCAM: This gene has been confirmed for this panel by the NHS Genomic Medicine Service and should be rated green.
Intestinal failure or congenital diarrhoea v1.48 EPCAM Eleanor Williams commented on gene: EPCAM
Intestinal failure or congenital diarrhoea v1.48 EGFR Eleanor Williams commented on gene: EGFR
Intestinal failure or congenital diarrhoea v1.48 DGAT1 Eleanor Williams commented on gene: DGAT1
Intestinal failure or congenital diarrhoea v1.48 CTLA4 Eleanor Williams commented on gene: CTLA4
Intestinal failure or congenital diarrhoea v1.48 CD55 Eleanor Williams commented on gene: CD55
Intestinal failure or congenital diarrhoea v1.48 CCBE1 Eleanor Williams commented on gene: CCBE1: This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.
Intestinal failure or congenital diarrhoea v1.48 CCBE1 Eleanor Williams commented on gene: CCBE1
Intestinal failure or congenital diarrhoea v1.48 ARX Eleanor Williams commented on gene: ARX
Intestinal failure or congenital diarrhoea v1.48 APOB Eleanor Williams commented on gene: APOB: This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.
Intestinal failure or congenital diarrhoea v1.48 APOB Eleanor Williams commented on gene: APOB
Intestinal failure or congenital diarrhoea v1.48 AP1S1 Eleanor Williams commented on gene: AP1S1
Intestinal failure or congenital diarrhoea v1.48 ANGPTL3 Eleanor Williams commented on gene: ANGPTL3: This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.
Intestinal failure or congenital diarrhoea v1.48 ANGPTL3 Eleanor Williams commented on gene: ANGPTL3
Intestinal failure or congenital diarrhoea v1.48 ADAMTS3 Eleanor Williams commented on gene: ADAMTS3: This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.
Intestinal failure or congenital diarrhoea v1.48 ADAMTS3 Eleanor Williams commented on gene: ADAMTS3
Intestinal failure or congenital diarrhoea v1.48 ADAM17 Eleanor Williams commented on gene: ADAM17: This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.
Intestinal failure or congenital diarrhoea v1.48 ADAM17 Eleanor Williams commented on gene: ADAM17
Intestinal failure or congenital diarrhoea v1.47 XIAP Ivone Leong gene: XIAP was added
gene: XIAP was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: XIAP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: XIAP were set to Lymphoproliferative syndrome, X-linked, 2, OMIM:300635
Intestinal failure or congenital diarrhoea v1.47 WNT2B Ivone Leong Source Expert Review Green was added to WNT2B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intestinal failure or congenital diarrhoea v1.47 TTC7A Ivone Leong gene: TTC7A was added
gene: TTC7A was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: TTC7A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC7A were set to Gastrointestinal defects and immunodeficiency syndrome, OMIM:243150
Intestinal failure or congenital diarrhoea v1.47 TMPRSS15 Ivone Leong Source Expert Review Green was added to TMPRSS15.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intestinal failure or congenital diarrhoea v1.47 TERT Ivone Leong gene: TERT was added
gene: TERT was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: TERT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TERT were set to Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
Intestinal failure or congenital diarrhoea v1.47 SLC5A1 Ivone Leong gene: SLC5A1 was added
gene: SLC5A1 was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: SLC5A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC5A1 were set to Glucose/galactose malabsorption, OMIM:606824
Intestinal failure or congenital diarrhoea v1.47 SLC39A4 Ivone Leong gene: SLC39A4 was added
gene: SLC39A4 was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: SLC39A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC39A4 were set to Acrodermatitis enteropathica, OMIM:201100
Intestinal failure or congenital diarrhoea v1.47 SLC10A2 Ivone Leong gene: SLC10A2 was added
gene: SLC10A2 was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: SLC10A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC10A2 were set to ?Bile acid malabsorption, primary, 1, OMIM:613291
Intestinal failure or congenital diarrhoea v1.47 SI Ivone Leong gene: SI was added
gene: SI was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: SI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SI were set to Sucrase-isomaltase deficiency, congenital, OMIM:222900
Intestinal failure or congenital diarrhoea v1.47 SAR1B Ivone Leong gene: SAR1B was added
gene: SAR1B was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: SAR1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SAR1B were set to Chylomicron retention disease, OMIM:246700
Intestinal failure or congenital diarrhoea v1.47 RFX6 Ivone Leong gene: RFX6 was added
gene: RFX6 was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: RFX6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RFX6 were set to Mitchell-Riley syndrome, OMIM:615710
Intestinal failure or congenital diarrhoea v1.47 PLVAP Ivone Leong Source Expert Review Green was added to PLVAP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intestinal failure or congenital diarrhoea v1.47 PCSK1 Ivone Leong gene: PCSK1 was added
gene: PCSK1 was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: PCSK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCSK1 were set to Obesity with impaired prohormone processing, OMIM:600955
Intestinal failure or congenital diarrhoea v1.47 NEUROG3 Ivone Leong Source Expert Review Green was added to NEUROG3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intestinal failure or congenital diarrhoea v1.47 MTTP Ivone Leong gene: MTTP was added
gene: MTTP was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: MTTP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTTP were set to Abetalipoproteinemia, OMIM:200100
Intestinal failure or congenital diarrhoea v1.47 LRBA Ivone Leong gene: LRBA was added
gene: LRBA was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRBA were set to Immunodeficiency, common variable, 8, with autoimmunity, OMIM:614700
Intestinal failure or congenital diarrhoea v1.47 LCT Ivone Leong gene: LCT was added
gene: LCT was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: LCT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LCT were set to Lactase deficiency, congenital, OMIM:223000
Intestinal failure or congenital diarrhoea v1.47 KMT2D Ivone Leong gene: KMT2D was added
gene: KMT2D was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KMT2D were set to Kabuki syndrome 1, OMIM:147920
Intestinal failure or congenital diarrhoea v1.47 ICOS Ivone Leong gene: ICOS was added
gene: ICOS was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: ICOS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ICOS were set to Immunodeficiency, common variable, 1, OMIM:607594
Intestinal failure or congenital diarrhoea v1.47 FOXP3 Ivone Leong gene: FOXP3 was added
gene: FOXP3 was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: FOXP3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FOXP3 were set to Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, OMIM:304790
Intestinal failure or congenital diarrhoea v1.47 FAT4 Ivone Leong gene: FAT4 was added
gene: FAT4 was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: FAT4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAT4 were set to Hennekam lymphangiectasia-lymphedema syndrome 2, OMIM:616006
Intestinal failure or congenital diarrhoea v1.47 EGFR Ivone Leong gene: EGFR was added
gene: EGFR was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: EGFR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EGFR were set to 26436111; 29899996; 24691054
Phenotypes for gene: EGFR were set to ?Inflammatory skin and bowel disease, neonatal, 2, OMIM:616069
Intestinal failure or congenital diarrhoea v1.47 CTLA4 Ivone Leong gene: CTLA4 was added
gene: CTLA4 was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: CTLA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CTLA4 were set to Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation, OMIM:616100; {Celiac disease, susceptibility to, 3}, OMIM:609755
Intestinal failure or congenital diarrhoea v1.47 CD55 Ivone Leong gene: CD55 was added
gene: CD55 was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: CD55 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CD55 were set to Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, OMIM:226300
Intestinal failure or congenital diarrhoea v1.47 CCBE1 Ivone Leong gene: CCBE1 was added
gene: CCBE1 was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: CCBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCBE1 were set to Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510
Intestinal failure or congenital diarrhoea v1.47 ARX Ivone Leong gene: ARX was added
gene: ARX was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: ARX was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: ARX were set to Lissencephaly, X-linked 2, OMIM:300215
Intestinal failure or congenital diarrhoea v1.47 APOB Ivone Leong gene: APOB was added
gene: APOB was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: APOB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APOB were set to Hypobetalipoproteinemia, OMIM:615558
Intestinal failure or congenital diarrhoea v1.47 AP1S1 Ivone Leong Source Expert Review Green was added to AP1S1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intestinal failure or congenital diarrhoea v1.47 ANGPTL3 Ivone Leong gene: ANGPTL3 was added
gene: ANGPTL3 was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: ANGPTL3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANGPTL3 were set to Hypobetalipoproteinemia, familial, 2, OMIM:605019
Intestinal failure or congenital diarrhoea v1.47 ADAMTS3 Ivone Leong gene: ADAMTS3 was added
gene: ADAMTS3 was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: ADAMTS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTS3 were set to Hennekam lymphangiectasia-lymphedema syndrome 3, OMIM:618154
Intestinal failure or congenital diarrhoea v1.47 ADAM17 Ivone Leong gene: ADAM17 was added
gene: ADAM17 was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: ADAM17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAM17 were set to ?Inflammatory skin and bowel disease, neonatal, 1, OMIM:614328
Intestinal failure or congenital diarrhoea v1.46 CLMP Ivone Leong Tag Q2_21_rating was removed from gene: CLMP.
Tag Q2_21_NHS_review was removed from gene: CLMP.
Intestinal failure or congenital diarrhoea v1.46 FLNA Ivone Leong Tag Q2_21_rating was removed from gene: FLNA.
Tag Q2_21_NHS_review was removed from gene: FLNA.
Intestinal failure or congenital diarrhoea v1.46 FLNA Ivone Leong commented on gene: FLNA: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intestinal failure or congenital diarrhoea v1.46 CLMP Ivone Leong commented on gene: CLMP: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intestinal failure or congenital diarrhoea v1.45 FLNA Ivone Leong Source Expert Review Green was added to FLNA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intestinal failure or congenital diarrhoea v1.45 CLMP Ivone Leong Source Expert Review Green was added to CLMP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intestinal failure or congenital diarrhoea v1.44 MYO5B Arina Puzriakova Phenotypes for gene: MYO5B were changed from Microvillus inclusion disease, OMIM:251850 to Diarrhea 2, with microvillus atrophy, OMIM:251850
Intestinal failure or congenital diarrhoea v1.43 AGR2 Ivone Leong Entity copied from Respiratory ciliopathies including non-CF bronchiectasis v1.53
Intestinal failure or congenital diarrhoea v1.43 AGR2 Ivone Leong gene: AGR2 was added
gene: AGR2 was added to Intestinal failure. Sources: Expert Review Amber,Literature
Q1_22_rating tags were added to gene: AGR2.
Mode of inheritance for gene: AGR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGR2 were set to 34952832
Phenotypes for gene: AGR2 were set to Cystic fibrosis-like syndrome; chronic diarrhoea
Penetrance for gene: AGR2 were set to Complete
Intestinal failure or congenital diarrhoea v1.42 FLNA Arina Puzriakova Added comment: Comment on mode of inheritance: Female carriers do not exhibit gastrointestinal defects indicating XLR inheritance
Intestinal failure or congenital diarrhoea v1.42 FLNA Arina Puzriakova Mode of inheritance for gene: FLNA was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intestinal failure or congenital diarrhoea v1.41 FLNA Arina Puzriakova Phenotypes for gene: FLNA were changed from Congenital short bowel syndrome, OMIM:300048 to Congenital short bowel syndrome, OMIM:300048; Intestinal pseudoobstruction, neuronal, OMIM:300048; ?FG syndrome 2, OMIM:300321
Intestinal failure or congenital diarrhoea v1.40 AP1S1 Ivone Leong Publications for gene: AP1S1 were set to 32306098; 15668823, 19057675, 23423674, 30244301
Intestinal failure or congenital diarrhoea v1.39 AP1S1 Ivone Leong Classified gene: AP1S1 as Amber List (moderate evidence)
Intestinal failure or congenital diarrhoea v1.39 AP1S1 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM but not in Gene2Phenotype.

After discussion with the Genomics England Clinical Team it was decided that it was appropriate to consider all evidence (including the cases that have an intestinal phenotype for this gene - MEDNIK syndrome), therefore, there is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Intestinal failure or congenital diarrhoea v1.39 AP1S1 Ivone Leong Gene: ap1s1 has been classified as Amber List (Moderate Evidence).
Intestinal failure or congenital diarrhoea v1.38 AP1S1 Ivone Leong Tag Q2_21_rating tag was added to gene: AP1S1.
Intestinal failure or congenital diarrhoea v1.38 AP1S1 Ivone Leong Phenotypes for gene: AP1S1 were changed from Non-syndromic congenital intestinal failure to Non-syndromic congenital intestinal failure; MEDNIK syndrome, OMIM:609313
Intestinal failure or congenital diarrhoea v1.37 AP1S1 Ivone Leong Publications for gene: AP1S1 were set to 32306098
Intestinal failure or congenital diarrhoea v1.36 IL37 Arina Puzriakova gene: IL37 was added
gene: IL37 was added to Intestinal failure. Sources: Literature
Mode of inheritance for gene: IL37 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL37 were set to 33674380
Phenotypes for gene: IL37 were set to Infantile inflammatory bowel disease
Review for gene: IL37 was set to RED
Added comment: Single family reported with homozygous truncating variant this gene and infantile-onset of IBD, some functional data.
Sources: Literature
Intestinal failure or congenital diarrhoea v1.35 TMPRSS15 Ivone Leong Classified gene: TMPRSS15 as Amber List (moderate evidence)
Intestinal failure or congenital diarrhoea v1.35 TMPRSS15 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. This gene is associated with a relevant phenotype in OMIM but not Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Intestinal failure or congenital diarrhoea v1.35 TMPRSS15 Ivone Leong Gene: tmprss15 has been classified as Amber List (Moderate Evidence).
Intestinal failure or congenital diarrhoea v1.34 TMPRSS15 Ivone Leong Tag Q2_21_rating tag was added to gene: TMPRSS15.
Intestinal failure or congenital diarrhoea v1.34 TMPRSS15 Ivone Leong Phenotypes for gene: TMPRSS15 were changed from Enterokinase deficiency, MIM# 226200 to Enterokinase deficiency, OMIM:226200
Intestinal failure or congenital diarrhoea v1.33 PLVAP Ivone Leong Classified gene: PLVAP as Amber List (moderate evidence)
Intestinal failure or congenital diarrhoea v1.33 PLVAP Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Intestinal failure or congenital diarrhoea v1.33 PLVAP Ivone Leong Gene: plvap has been classified as Amber List (Moderate Evidence).
Intestinal failure or congenital diarrhoea v1.32 PLVAP Ivone Leong Tag Q2_21_rating tag was added to gene: PLVAP.
Intestinal failure or congenital diarrhoea v1.32 PLVAP Ivone Leong Added comment: Comment on publications: PMID: 26207260. Patient is of Afgan descent born to consanguineous parents. Presented at 8 days of life with secretory diarrhea, metabolic acidosis, lethargy, poor feeding, and severe hyponatremia causing seizures. Further examination shows patient had bilateral colobomas, undescended testes, mildly dysplastic kidneys bilaterally, low-set ears, and micrognathia.

PMID: 29875123. 2 patients (first cousins) from a Muslim Arab consanguineous kindred presented with anasarca, severe hypoalbuminaemia and hypogammaglobinaemia.

PMID: 29661969. Patient is of Turkish descent born to consanguineous parents. Presented with severe haematochezia and moderate anasarca. Other findings: dysmorphism, metabolic acidosis, electrolyte deficiencies, elevated GGT, choroid plexus cysts, iris cysts, ASD, VSD, dilated megaureter with dilated renal pelvis, venous thrombosis.

PMID: 31215290. Patient born to consanguineous parents. As well as intestinal phenotypes, she also had dysmorphic features, renal and cardiac phenotypes.
Intestinal failure or congenital diarrhoea v1.32 PLVAP Ivone Leong Publications for gene: PLVAP were set to 29875123; 29661969; 26207260; 31215290
Intestinal failure or congenital diarrhoea v1.31 PLVAP Ivone Leong Phenotypes for gene: PLVAP were changed from Diarrhoea 10, protein-losing enteropathy type, MIM# 618183 to Diarrhoea 10, protein-losing enteropathy type, OMIM:618183
Intestinal failure or congenital diarrhoea v1.30 NEUROG3 Ivone Leong Classified gene: NEUROG3 as Amber List (moderate evidence)
Intestinal failure or congenital diarrhoea v1.30 NEUROG3 Ivone Leong Added comment: Comment on list classification: This gene is associated with a relevant phenotype in OMIM but not Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Intestinal failure or congenital diarrhoea v1.30 NEUROG3 Ivone Leong Gene: neurog3 has been classified as Amber List (Moderate Evidence).
Intestinal failure or congenital diarrhoea v1.29 NEUROG3 Ivone Leong Tag Q2_21_rating tag was added to gene: NEUROG3.
Intestinal failure or congenital diarrhoea v1.29 NEUROG3 Ivone Leong Phenotypes for gene: NEUROG3 were changed from Diarrhoea 4, malabsorptive, congenital, MIM# 610370 to Diarrhoea 4, malabsorptive, congenital, OMIM:610370
Intestinal failure or congenital diarrhoea v1.28 WNT2B Ivone Leong Classified gene: WNT2B as Amber List (moderate evidence)
Intestinal failure or congenital diarrhoea v1.28 WNT2B Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. This gene is associated with a relevant phenotype in OMIM and not Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Intestinal failure or congenital diarrhoea v1.28 WNT2B Ivone Leong Gene: wnt2b has been classified as Amber List (Moderate Evidence).
Intestinal failure or congenital diarrhoea v1.27 WNT2B Ivone Leong Tag Q2_21_rating tag was added to gene: WNT2B.
Intestinal failure or congenital diarrhoea v1.27 WNT2B Ivone Leong Added comment: Comment on publications: PMID: 33526876 reports an additional unrelated case. Patient is of Haitian descent (previous cases described in PMID:29909964 are of Vietnamese and Kuwaiti origins). Patient has neonatal onset diarrhoea with metabolic acidosis and failure to thrive. Patient also has bilateral microcornea and corneal clouding. Patient also presented with ambiguous genitalia and diagnosed with 46,XX testicular DSD.

The authors reviewed the clinical findings of the previous patients they had reported on (PMID:29909964) and found that the Kuwaiti patients had bilateral microcornea, corneal neovascularization and thick corneas (I-2), and bilateral iridocorneal adhesions, congenital cataract, and iris coloboma (I-3). The gonadal findings in the Haitian patient was not seen in any of the other affected patients.
Intestinal failure or congenital diarrhoea v1.27 WNT2B Ivone Leong Publications for gene: WNT2B were set to 29909964
Intestinal failure or congenital diarrhoea v1.26 WNT2B Ivone Leong Phenotypes for gene: WNT2B were changed from Diarrhoea 9, MIM# 618168 to Diarrhoea 9, OMIM:618168
Intestinal failure or congenital diarrhoea v1.25 TTC37 Ivone Leong Phenotypes for gene: TTC37 were changed from Trichohepatoenteric syndrome 1 222470 to Trichohepatoenteric syndrome 1, OMM:222470
Intestinal failure or congenital diarrhoea v1.24 STXBP2 Ivone Leong Phenotypes for gene: STXBP2 were changed from Hemophagocytic lymphohistiocytosis, familial, 5 613101 to Hemophagocytic lymphohistiocytosis, familial, 5, OMIM:613101
Intestinal failure or congenital diarrhoea v1.23 STX3 Ivone Leong Phenotypes for gene: STX3 were changed from Microvillus inclusion disease; congenital diarrheal disorder to Microvillus inclusion disease, MONDO:0009635; diarrheal disorder, MONDO:0001673
Intestinal failure or congenital diarrhoea v1.22 SPINT2 Ivone Leong Phenotypes for gene: SPINT2 were changed from congenital sodium diarrhea; Congenital tufting enteropathy to Diarrhea 3, secretory sodium, congenital, syndromic, OMIM:270420
Intestinal failure or congenital diarrhoea v1.21 SLC9A3 Ivone Leong Phenotypes for gene: SLC9A3 were changed from Congenital sodium diarrhea to Diarrhea 8, secretory sodium, congenital, OMM:616868
Intestinal failure or congenital diarrhoea v1.20 SLC26A3 Ivone Leong Phenotypes for gene: SLC26A3 were changed from Congenital chloride diarrhea to Diarrhea 1, secretory chloride, congenital, OMIM:214700
Intestinal failure or congenital diarrhoea v1.19 SKIV2L Ivone Leong Added comment: Comment on publications: 27537055 - a pathogenic variant (heterozygous state) in this gene was reported in a patient using whole exome sequencing screening in 147 pediatric patients with monogenic Inflammatory Bowel Disease.
Intestinal failure or congenital diarrhoea v1.19 SKIV2L Ivone Leong Publications for gene: SKIV2L were set to 22444670; 27302973; 27537055 - a pathogenic variant (heterozygous state) in this gene was reported in a patient using whole exome sequencing screening in 147 pediatric patients with monogenic Inflammatory Bowel Disease.
Intestinal failure or congenital diarrhoea v1.18 SKIV2L Ivone Leong Phenotypes for gene: SKIV2L were changed from Trichohepatoenteric syndrome 2 614602 to Trichohepatoenteric syndrome 2, OMIM:614602
Intestinal failure or congenital diarrhoea v1.17 MYO5B Ivone Leong Phenotypes for gene: MYO5B were changed from Microvillus inclusion disease, 251850 to Microvillus inclusion disease, OMIM:251850
Intestinal failure or congenital diarrhoea v1.16 GUCY2C Ivone Leong Phenotypes for gene: GUCY2C were changed from Familial Diarrhea 6 614616 to Familial Diarrhea 6, OMIM:614616
Intestinal failure or congenital diarrhoea v1.15 GUCY2C Ivone Leong Phenotypes for gene: GUCY2C were changed from Familial Diarrhea 6 614616 to Familial Diarrhea 6 614616
Intestinal failure or congenital diarrhoea v1.14 EPCAM Ivone Leong Phenotypes for gene: EPCAM were changed from Diarrhea 5, with tufting enteropathy, congenital 613217 to Diarrhea 5, with tufting enteropathy, congenital, OMIM:613217
Intestinal failure or congenital diarrhoea v1.13 DGAT1 Ivone Leong Phenotypes for gene: DGAT1 were changed from Congenital diarrheal disorder to Congenital diarrheal disorder; ?Diarrhea 7, protein-losing enteropathy type, OMIM:615863
Intestinal failure or congenital diarrhoea v1.12 FLNA Ivone Leong Tag Q2_21_rating tag was added to gene: FLNA.
Tag Q2_21_NHS_review tag was added to gene: FLNA.
Intestinal failure or congenital diarrhoea v1.12 FLNA Ivone Leong Classified gene: FLNA as Amber List (moderate evidence)
Intestinal failure or congenital diarrhoea v1.12 FLNA Ivone Leong Added comment: Comment on list classification: New gene added by Miranda Durkie (Genetics). This gene is associated with a relevant disorder on OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Intestinal failure or congenital diarrhoea v1.12 FLNA Ivone Leong Gene: flna has been classified as Amber List (Moderate Evidence).
Intestinal failure or congenital diarrhoea v1.11 FLNA Ivone Leong Phenotypes for gene: FLNA were changed from Congenital short bowel to Congenital short bowel syndrome, OMIM:300048
Intestinal failure or congenital diarrhoea v1.10 FLNA Ivone Leong Publications for gene: FLNA were set to PMID: 23037936; PMID: 23873601; PMID: 33464596
Intestinal failure or congenital diarrhoea v1.9 CLMP Ivone Leong Tag Q2_21_rating tag was added to gene: CLMP.
Tag Q2_21_NHS_review tag was added to gene: CLMP.
Intestinal failure or congenital diarrhoea v1.9 CLMP Ivone Leong Classified gene: CLMP as Amber List (moderate evidence)
Intestinal failure or congenital diarrhoea v1.9 CLMP Ivone Leong Added comment: Comment on list classification: New gene added by Miranda Durkie (Genetics). This gene is associated with a relevant disorder on OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Intestinal failure or congenital diarrhoea v1.9 CLMP Ivone Leong Gene: clmp has been classified as Amber List (Moderate Evidence).
Intestinal failure or congenital diarrhoea v1.8 CLMP Ivone Leong Phenotypes for gene: CLMP were changed from Congenital short bowel to Congenital short bowel syndrome, OMIM:615237
Intestinal failure or congenital diarrhoea v1.7 CLMP Ivone Leong Publications for gene: CLMP were set to 27352967; 22155368; 33384711; 31061750
Intestinal failure or congenital diarrhoea v1.6 CLMP Ivone Leong Publications for gene: CLMP were set to PMID: 27352967; PMID: 22155368; PMID: 33384711; PMID: 31061750
Intestinal failure or congenital diarrhoea v1.5 FLNA Miranda Durkie gene: FLNA was added
gene: FLNA was added to Intestinal failure. Sources: Literature
Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: FLNA were set to PMID: 23037936; PMID: 23873601; PMID: 33464596
Phenotypes for gene: FLNA were set to Congenital short bowel
Penetrance for gene: FLNA were set to unknown
Review for gene: FLNA was set to GREEN
Added comment: Congenital short bowel not included in other panels - overlap with intestinal failure presentation
PMID: 23037936 - affected males in 2 families
PMID: 33464596 - 1 affected male
Sources: Literature
Intestinal failure or congenital diarrhoea v1.5 CLMP Miranda Durkie gene: CLMP was added
gene: CLMP was added to Intestinal failure. Sources: Literature
Mode of inheritance for gene: CLMP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLMP were set to PMID: 27352967; PMID: 22155368; PMID: 33384711; PMID: 31061750
Phenotypes for gene: CLMP were set to Congenital short bowel
Penetrance for gene: CLMP were set to unknown
Review for gene: CLMP was set to GREEN
Added comment: Genes for CSB not available on any other GMS panel/overlap with intestinal failure presentation
PMID: 33384711 - 2 brothers with compound het LOF variants
PMID: 31061750 - 1 proband with homozygous LOF CLMP variants
PMID: 27720179 1 proband with compound het LOF variants
PMID: 27352967: 3 patients from 2 families
PMID: 22155368 - initial paper
Sources: Literature
Intestinal failure or congenital diarrhoea v1.5 PLVAP Zornitza Stark gene: PLVAP was added
gene: PLVAP was added to Intestinal failure. Sources: Expert Review
Mode of inheritance for gene: PLVAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLVAP were set to 29875123; 29661969; 26207260; 31215290
Phenotypes for gene: PLVAP were set to Diarrhoea 10, protein-losing enteropathy type, MIM# 618183
Review for gene: PLVAP was set to GREEN
gene: PLVAP was marked as current diagnostic
Added comment: Diarrhoea-10 is a protein-losing enteropathy characterized by intractable secretory diarrhoea and massive protein loss due to leaky fenestrated capillaries. Features include early-onset anasarca, severe hypoalbuminemia, hypogammaglobulinemia, and hypertriglyceridemia, as well as electrolyte abnormalities. Some patients exhibit facial dysmorphism and cardiac and renal anomalies. Intrafamilial variability has been observed, and the disease can be severe, with death occurring in infancy in some patients.

Four unrelated families reported.
Sources: Expert Review
Intestinal failure or congenital diarrhoea v1.5 NEUROG3 Zornitza Stark gene: NEUROG3 was added
gene: NEUROG3 was added to Intestinal failure. Sources: Expert Review
Mode of inheritance for gene: NEUROG3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEUROG3 were set to 16855267; 32574610; 28724572; 21490072
Phenotypes for gene: NEUROG3 were set to Diarrhoea 4, malabsorptive, congenital, MIM# 610370
Review for gene: NEUROG3 was set to GREEN
Added comment: Multiple families reported with malabsorptive diarrhoea +/- neonatal diabetes.
Sources: Expert Review
Intestinal failure or congenital diarrhoea v1.5 TMPRSS15 Zornitza Stark gene: TMPRSS15 was added
gene: TMPRSS15 was added to Intestinal failure. Sources: Expert Review
Mode of inheritance for gene: TMPRSS15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMPRSS15 were set to 11719902; 33061943
Phenotypes for gene: TMPRSS15 were set to Enterokinase deficiency, MIM# 226200
Review for gene: TMPRSS15 was set to GREEN
gene: TMPRSS15 was marked as current diagnostic
Added comment: Deficiency of enterokinase, a sequence-specific protease that activates trypsinogen and has a major role in protein digestion, is an autosomal recessive disorder characterised by severe protein malabsorption in early infancy, with failure to thrive, chronic diarrhoea, and generalized oedema. In adulthood, patients have normal body weight and no gastrointestinal symptoms, even when pancreatic enzyme supplements are discontinued. Three unrelated families reported with molecularly confirmed diagnosis.
Sources: Expert Review
Intestinal failure or congenital diarrhoea v1.5 WNT2B Zornitza Stark gene: WNT2B was added
gene: WNT2B was added to Intestinal failure. Sources: Expert Review
Mode of inheritance for gene: WNT2B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WNT2B were set to 29909964
Phenotypes for gene: WNT2B were set to Diarrhoea 9, MIM# 618168
Review for gene: WNT2B was set to GREEN
gene: WNT2B was marked as current diagnostic
Added comment: Diarrhoea-9 is a form of neonatal-onset chronic diarrhoea characterized by an osmotic diarrhoea that is not substrate specific, abnormal crypt and villus architecture, and significant fat malabsorption. Three probands from two unrelated families and functional data suggesting severe intestinal dysregulation due to decreased intestinal stem cell number and function.

Borderline Green/Amber.
Sources: Expert Review
Intestinal failure or congenital diarrhoea v1.5 AP1S1 Zornitza Stark gene: AP1S1 was added
gene: AP1S1 was added to Intestinal failure. Sources: Literature
Mode of inheritance for gene: AP1S1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP1S1 were set to 32306098
Phenotypes for gene: AP1S1 were set to Non-syndromic congenital intestinal failure
Review for gene: AP1S1 was set to AMBER
Added comment: - Established gene-disease association with MEDNIK syndrome
- PMID: 32306098 propose a clinical and genetic expansion for AP1S1-associated disease

- 2 consanguineous families, each carrying a homozygous missense AP1S1 variant
- AP1S1 knockout cell line demonstrated tight-junction and polarity abnormalities that were rescued by WT AP1S1, but not the AP1S1 missense variants.
Sources: Literature
Intestinal failure or congenital diarrhoea v1.5 ANO1 Arina Puzriakova Classified gene: ANO1 as Amber List (moderate evidence)
Intestinal failure or congenital diarrhoea v1.5 ANO1 Arina Puzriakova Added comment: Comment on list classification: Rating Amber, awaiting further cases and review of phenotype associated with variants in this gene.
Intestinal failure or congenital diarrhoea v1.5 ANO1 Arina Puzriakova Gene: ano1 has been classified as Amber List (Moderate Evidence).
Intestinal failure or congenital diarrhoea v1.4 ANO1 Arina Puzriakova gene: ANO1 was added
gene: ANO1 was added to Intestinal failure. 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
Intestinal failure or congenital diarrhoea v1.3 Ellen McDonagh Panel version has been signed off
Intestinal failure or congenital diarrhoea v1.0 Ivone Leong promoted panel to version 1.0
Intestinal failure or congenital diarrhoea v0.32 Ivone Leong Panel types changed to GMS Rare Disease; GMS signed-off
Intestinal failure or congenital diarrhoea v0.31 Ivone Leong List of related panels changed from to R331
Intestinal failure or congenital diarrhoea v0.29 SPINT2 Ivone Leong Mode of inheritance for gene: SPINT2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intestinal failure or congenital diarrhoea v0.28 SPINT2 Ivone Leong Mode of inheritance for gene: SPINT2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Intestinal failure or congenital diarrhoea v0.27 SPINT2 Ivone Leong Phenotypes for gene: SPINT2 were changed from to congenital sodium diarrhea; Congenital tufting enteropathy
Intestinal failure or congenital diarrhoea v0.26 SPINT2 Ivone Leong Publications for gene: SPINT2 were set to
Intestinal failure or congenital diarrhoea v0.25 SLC26A3 Ivone Leong Phenotypes for gene: SLC26A3 were changed from to Congenital chloride diarrhea
Intestinal failure or congenital diarrhoea v0.24 SLC26A3 Ivone Leong Mode of inheritance for gene: SLC26A3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Intestinal failure or congenital diarrhoea v0.23 SLC9A3 Ivone Leong Mode of inheritance for gene: SLC9A3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Intestinal failure or congenital diarrhoea v0.22 SLC9A3 Ivone Leong Phenotypes for gene: SLC9A3 were changed from to Congenital sodium diarrhea
Intestinal failure or congenital diarrhoea v0.21 SLC9A3 Ivone Leong Publications for gene: SLC9A3 were set to
Intestinal failure or congenital diarrhoea v0.20 SLC26A3 Ivone Leong Publications for gene: SLC26A3 were set to
Intestinal failure or congenital diarrhoea v0.18 STX3 Ivone Leong Marked gene: STX3 as ready
Intestinal failure or congenital diarrhoea v0.18 STX3 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Intestinal failure or congenital diarrhoea v0.18 STX3 Ivone Leong Gene: stx3 has been classified as Green List (High Evidence).
Intestinal failure or congenital diarrhoea v0.18 STX3 Ivone Leong Publications for gene: STX3 were set to 24726755; 29266534; 25358429
Intestinal failure or congenital diarrhoea v0.17 STX3 Ivone Leong Mode of inheritance for gene: STX3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Intestinal failure or congenital diarrhoea v0.16 SPINT2 Miranda Durkie reviewed gene: SPINT2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19185281, 24142340; Phenotypes: congenital sodium diarrhea, Congenital tufting enteropathy; Mode of inheritance: None
Intestinal failure or congenital diarrhoea v0.16 SLC9A3 Miranda Durkie reviewed gene: SLC9A3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26358773; Phenotypes: Congenital sodium diarrhea; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intestinal failure or congenital diarrhoea v0.16 SLC26A3 Miranda Durkie reviewed gene: SLC26A3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25711268, 25568271, 26157392, 27525615, 26637435, 27784486, 28258656, 28644346, 30635044; Phenotypes: Congenital chloride diarrhea; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intestinal failure or congenital diarrhoea v0.16 TTC37 Ivone Leong Marked gene: TTC37 as ready
Intestinal failure or congenital diarrhoea v0.16 TTC37 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Intestinal failure or congenital diarrhoea v0.16 TTC37 Ivone Leong Gene: ttc37 has been classified as Green List (High Evidence).
Intestinal failure or congenital diarrhoea v0.16 STXBP2 Ivone Leong Marked gene: STXBP2 as ready
Intestinal failure or congenital diarrhoea v0.16 STXBP2 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Intestinal failure or congenital diarrhoea v0.16 STXBP2 Ivone Leong Gene: stxbp2 has been classified as Green List (High Evidence).
Intestinal failure or congenital diarrhoea v0.16 STX3 Ivone Leong Phenotypes for gene: STX3 were changed from to Microvillus inclusion disease; congenital diarrheal disorder
Intestinal failure or congenital diarrhoea v0.15 STX3 Ivone Leong Publications for gene: STX3 were set to 24726755; 29266534
Intestinal failure or congenital diarrhoea v0.14 DGAT1 Ivone Leong Mode of inheritance for gene: DGAT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Intestinal failure or congenital diarrhoea v0.13 STX3 Ivone Leong Publications for gene: STX3 were set to
Intestinal failure or congenital diarrhoea v0.12 SKIV2L Ivone Leong Marked gene: SKIV2L as ready
Intestinal failure or congenital diarrhoea v0.12 SKIV2L Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Intestinal failure or congenital diarrhoea v0.12 SKIV2L Ivone Leong Gene: skiv2l has been classified as Green List (High Evidence).
Intestinal failure or congenital diarrhoea v0.12 MYO5B Ivone Leong Marked gene: MYO5B as ready
Intestinal failure or congenital diarrhoea v0.12 MYO5B Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Intestinal failure or congenital diarrhoea v0.12 MYO5B Ivone Leong Gene: myo5b has been classified as Green List (High Evidence).
Intestinal failure or congenital diarrhoea v0.12 GUCY2C Ivone Leong Marked gene: GUCY2C as ready
Intestinal failure or congenital diarrhoea v0.12 GUCY2C Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Intestinal failure or congenital diarrhoea v0.12 GUCY2C Ivone Leong Gene: gucy2c has been classified as Green List (High Evidence).
Intestinal failure or congenital diarrhoea v0.12 EPCAM Ivone Leong Marked gene: EPCAM as ready
Intestinal failure or congenital diarrhoea v0.12 EPCAM Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Intestinal failure or congenital diarrhoea v0.12 EPCAM Ivone Leong Gene: epcam has been classified as Green List (High Evidence).
Intestinal failure or congenital diarrhoea v0.12 DGAT1 Ivone Leong Marked gene: DGAT1 as ready
Intestinal failure or congenital diarrhoea v0.12 DGAT1 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Intestinal failure or congenital diarrhoea v0.12 DGAT1 Ivone Leong Gene: dgat1 has been classified as Green List (High Evidence).
Intestinal failure or congenital diarrhoea v0.12 DGAT1 Ivone Leong Phenotypes for gene: DGAT1 were changed from to Congenital diarrheal disorder
Intestinal failure or congenital diarrhoea v0.11 DGAT1 Ivone Leong Publications for gene: DGAT1 were set to
Intestinal failure or congenital diarrhoea v0.10 DGAT1 Miranda Durkie reviewed gene: DGAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23114594, 26883093, 28937539, 28373485; Phenotypes: Congenital diarrheal disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intestinal failure or congenital diarrhoea v0.10 STX3 Miranda Durkie reviewed gene: STX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24726755, 29266534; Phenotypes: Microvillus inclusion disease, congenital diarrheal disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intestinal failure or congenital diarrhoea v0.10 STXBP2 Ivone Leong Source Other was added to STXBP2.
Mode of inheritance for gene STXBP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hemophagocytic lymphohistiocytosis, familial, 5 613101 for gene: STXBP2
Publications for gene STXBP2 were changed from to 20798128; 19804848
Intestinal failure or congenital diarrhoea v0.10 GUCY2C Ivone Leong Source Other was added to GUCY2C.
Mode of inheritance for gene GUCY2C was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity for gene GUCY2C was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Added phenotypes Familial Diarrhea 6 614616 for gene: GUCY2C
Publications for gene GUCY2C were changed from to 22521417; 22436048; 25994218
Intestinal failure or congenital diarrhoea v0.10 EPCAM Ivone Leong Source Other was added to EPCAM.
Mode of inheritance for gene EPCAM was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Diarrhea 5, with tufting enteropathy, congenital 613217 for gene: EPCAM
Publications for gene EPCAM were changed from to 18572020; 21315192; 27302973
Intestinal failure or congenital diarrhoea v0.10 SKIV2L Ivone Leong Source Other was added to SKIV2L.
Mode of inheritance for gene SKIV2L was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Trichohepatoenteric syndrome 2 614602 for gene: SKIV2L
Publications for gene SKIV2L were changed from to 22444670; 27302973; 27537055 - a pathogenic variant (heterozygous state) in this gene was reported in a patient using whole exome sequencing screening in 147 pediatric patients with monogenic Inflammatory Bowel Disease.
Intestinal failure or congenital diarrhoea v0.10 TTC37 Ivone Leong Source Other was added to TTC37.
Mode of inheritance for gene TTC37 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Trichohepatoenteric syndrome 1 222470 for gene: TTC37
Publications for gene TTC37 were changed from 27302973 to 27302973; 20176027
Intestinal failure or congenital diarrhoea v0.9 TTC37 Ivone Leong Publications for gene: TTC37 were set to
Intestinal failure or congenital diarrhoea v0.8 MYO5B Ivone Leong Phenotypes for gene: MYO5B were changed from to Microvillus inclusion disease, 251850
Intestinal failure or congenital diarrhoea v0.7 MYO5B Ivone Leong Mode of inheritance for gene: MYO5B was changed from to BIALLELIC, autosomal or pseudoautosomal
Intestinal failure or congenital diarrhoea v0.6 MYO5B Ivone Leong Publications for gene: MYO5B were set to
Intestinal failure or congenital diarrhoea v0.5 STX3 Anna de Burca Deleted their review
Intestinal failure or congenital diarrhoea v0.5 STX3 Anna de Burca reviewed gene: STX3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 24726755; Phenotypes: mi; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intestinal failure or congenital diarrhoea v0.5 STX3 Anna de Burca Deleted their review
Intestinal failure or congenital diarrhoea v0.5 STX3 Anna de Burca reviewed gene: STX3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 24726755; Phenotypes: Microvillus inclusion disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intestinal failure or congenital diarrhoea v0.5 STX3 Anna de Burca Deleted their review
Intestinal failure or congenital diarrhoea v0.5 STX3 Anna de Burca reviewed gene: STX3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 24726755; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intestinal failure or congenital diarrhoea v0.5 STX3 Anna de Burca Deleted their review
Intestinal failure or congenital diarrhoea v0.5 STX3 Anna de Burca reviewed gene: STX3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 24726755; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intestinal failure or congenital diarrhoea v0.5 MYO5B Anna de Burca reviewed gene: MYO5B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24014347, 29266534; Phenotypes: Microvillus inclusion disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intestinal failure or congenital diarrhoea v0.4 SLC9A3 Ivone Leong Source Expert Review Green was added to SLC9A3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Intestinal failure or congenital diarrhoea v0.4 DGAT1 Ivone Leong Source Expert Review Green was added to DGAT1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Intestinal failure or congenital diarrhoea v0.4 STXBP2 Ivone Leong Source Expert Review Green was added to STXBP2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Intestinal failure or congenital diarrhoea v0.4 SPINT2 Ivone Leong Source Expert Review Green was added to SPINT2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Intestinal failure or congenital diarrhoea v0.4 GUCY2C Ivone Leong Source Expert Review Green was added to GUCY2C.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Intestinal failure or congenital diarrhoea v0.4 EPCAM Ivone Leong Source Expert Review Green was added to EPCAM.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Intestinal failure or congenital diarrhoea v0.4 SLC26A3 Ivone Leong Source Expert Review Green was added to SLC26A3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Intestinal failure or congenital diarrhoea v0.4 SKIV2L Ivone Leong Source Expert Review Green was added to SKIV2L.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Intestinal failure or congenital diarrhoea v0.4 TTC37 Ivone Leong Source Expert Review Green was added to TTC37.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Intestinal failure or congenital diarrhoea v0.4 STX3 Ivone Leong Source Expert Review Green was added to STX3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Intestinal failure or congenital diarrhoea v0.4 MYO5B Ivone Leong Source Expert Review Green was added to MYO5B.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Intestinal failure or congenital diarrhoea v0.3 SLC9A3 Ivone Leong reviewed gene: SLC9A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intestinal failure or congenital diarrhoea v0.3 DGAT1 Ivone Leong reviewed gene: DGAT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intestinal failure or congenital diarrhoea v0.3 STXBP2 Ivone Leong reviewed gene: STXBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intestinal failure or congenital diarrhoea v0.3 SPINT2 Ivone Leong reviewed gene: SPINT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intestinal failure or congenital diarrhoea v0.3 GUCY2C Ivone Leong reviewed gene: GUCY2C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intestinal failure or congenital diarrhoea v0.3 EPCAM Ivone Leong reviewed gene: EPCAM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intestinal failure or congenital diarrhoea v0.3 SLC26A3 Ivone Leong reviewed gene: SLC26A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intestinal failure or congenital diarrhoea v0.3 SKIV2L Ivone Leong reviewed gene: SKIV2L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intestinal failure or congenital diarrhoea v0.3 TTC37 Ivone Leong reviewed gene: TTC37: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intestinal failure or congenital diarrhoea v0.3 STX3 Ivone Leong reviewed gene: STX3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intestinal failure or congenital diarrhoea v0.3 MYO5B Ivone Leong reviewed gene: MYO5B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intestinal failure or congenital diarrhoea v0.2 SLC9A3 Ivone Leong gene: SLC9A3 was added
gene: SLC9A3 was added to Intestinal failure. Sources: NHS GMS
Mode of inheritance for gene: SLC9A3 was set to
Intestinal failure or congenital diarrhoea v0.2 DGAT1 Ivone Leong gene: DGAT1 was added
gene: DGAT1 was added to Intestinal failure. Sources: NHS GMS
Mode of inheritance for gene: DGAT1 was set to
Intestinal failure or congenital diarrhoea v0.2 STXBP2 Ivone Leong gene: STXBP2 was added
gene: STXBP2 was added to Intestinal failure. Sources: NHS GMS
Mode of inheritance for gene: STXBP2 was set to
Intestinal failure or congenital diarrhoea v0.2 SPINT2 Ivone Leong gene: SPINT2 was added
gene: SPINT2 was added to Intestinal failure. Sources: NHS GMS
Mode of inheritance for gene: SPINT2 was set to
Intestinal failure or congenital diarrhoea v0.2 GUCY2C Ivone Leong gene: GUCY2C was added
gene: GUCY2C was added to Intestinal failure. Sources: NHS GMS
Mode of inheritance for gene: GUCY2C was set to
Intestinal failure or congenital diarrhoea v0.2 EPCAM Ivone Leong gene: EPCAM was added
gene: EPCAM was added to Intestinal failure. Sources: NHS GMS
Mode of inheritance for gene: EPCAM was set to
Intestinal failure or congenital diarrhoea v0.2 SLC26A3 Ivone Leong gene: SLC26A3 was added
gene: SLC26A3 was added to Intestinal failure. Sources: NHS GMS
Mode of inheritance for gene: SLC26A3 was set to
Intestinal failure or congenital diarrhoea v0.2 SKIV2L Ivone Leong gene: SKIV2L was added
gene: SKIV2L was added to Intestinal failure. Sources: NHS GMS
Mode of inheritance for gene: SKIV2L was set to
Intestinal failure or congenital diarrhoea v0.2 TTC37 Ivone Leong gene: TTC37 was added
gene: TTC37 was added to Intestinal failure. Sources: NHS GMS
Mode of inheritance for gene: TTC37 was set to
Intestinal failure or congenital diarrhoea v0.2 STX3 Ivone Leong gene: STX3 was added
gene: STX3 was added to Intestinal failure. Sources: NHS GMS
Mode of inheritance for gene: STX3 was set to
Intestinal failure or congenital diarrhoea v0.2 MYO5B Ivone Leong gene: MYO5B was added
gene: MYO5B was added to Intestinal failure. Sources: NHS GMS
Mode of inheritance for gene: MYO5B was set to
Intestinal failure or congenital diarrhoea v0.0 Ellen McDonagh Added Panel Intestinal failure
Set panel types to: GMS Rare Disease