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Congenital Diarrhoea v1.13 ACSL5 Zornitza Stark Gene: acsl5 has been classified as Red List (Low Evidence).
Congenital Diarrhoea v1.13 ACSL5 Zornitza Stark gene: ACSL5 was added
gene: ACSL5 was added to Congenital Diarrhoea. Sources: Literature
Mode of inheritance for gene: ACSL5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACSL5 were set to 33191500
Phenotypes for gene: ACSL5 were set to Diarrhoea 13, MIM# 620357
Review for gene: ACSL5 was set to RED
Added comment: 6 individuals of a large consanguineous family presented in the neonatal period with recurrent vomiting and diarrhea, leading to severe FTT. Autozygosity mapping and WES identified homozygous variant (c.1358C>A:p.(Thr453Lys) in ACSL5. Segregated with affected individuals.

Functional in vitro analysis of the ACSL5 variant by immunofluorescence, western blotting and enzyme assay suggested that Thr453Lys is a loss‐of‐function mutation without any remaining activity.

Affected individuals were treated with total parenteral nutrition or medium‐chain triglyceride‐based formula restricted in long‐chain triglycerides. They responded well and follow up suggests that treatment is only required during early life.
Sources: Literature
Congenital Diarrhoea v1.10 ANO1 Zornitza Stark Phenotypes for gene: ANO1 were changed from Impaired intestinal peristalsis; haemorrhagic diarrhoea; dysmorphic features to Intestinal dysmotility syndrome, MIM# 620045; Impaired intestinal peristalsis; haemorrhagic diarrhoea; dysmorphic features
Congenital Diarrhoea v1.9 ANO1 Zornitza Stark edited their review of gene: ANO1: Changed phenotypes: Intestinal dysmotility syndrome, MIM# 620045, Impaired intestinal peristalsis, haemorrhagic diarrhoea, dysmorphic features
Congenital Diarrhoea v1.9 AGR2 Zornitza Stark Gene: agr2 has been classified as Green List (High Evidence).
Congenital Diarrhoea v1.9 AGR2 Zornitza Stark Classified gene: AGR2 as Green List (high evidence)
Congenital Diarrhoea v1.9 AGR2 Zornitza Stark Gene: agr2 has been classified as Green List (High Evidence).
Congenital Diarrhoea v1.8 AGR2 Zornitza Stark gene: AGR2 was added
gene: AGR2 was added to Congenital Diarrhoea. Sources: Literature
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 CF-like disorder
Review for gene: AGR2 was set to GREEN
Added comment: 13 patients from 9 families with a CF-like phenotype consisting of recurrent lower respiratory infections (13/13), failure to thrive (13/13) and chronic diarrhoea (8/13), with high morbidity and mortality. All patients had biallelic variants in AGR2, (1) two splice-site variants, (2) gene deletion and (3) three missense variants.
Sources: Literature
Congenital Diarrhoea v1.7 SLC51A Zornitza Stark Gene: slc51a has been classified as Red List (Low Evidence).
Congenital Diarrhoea v1.7 SLC51A Zornitza Stark gene: SLC51A was added
gene: SLC51A was added to Congenital Diarrhoea. Sources: Literature
Mode of inheritance for gene: SLC51A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC51A were set to 31863603
Phenotypes for gene: SLC51A were set to Cholestasis, progressive familial intrahepatic, 6, MIM# 619484
Review for gene: SLC51A was set to RED
Added comment: Single individual reported with homozygous LoF variant, who presented with chronic malabsorptive diarrhoea, easy bruising, episodes of prolonged bleeding that required blood transfusions, and failure to thrive. Laboratory testing at age 2.5 years showed elevated liver transaminases and alkaline phosphatase. Liver biopsy demonstrated portal and periportal fibrosis and hepatocytes with foci of hepatocytic cholestasis. Analysis of bile acids in a blood spot were normal. Treatment with ursodiol and cholestyramine was started at 5 years of age. The coagulopathy resolved and his growth was adequate, but his liver transaminases, direct bilirubin, and GGT levels remained elevated.
Sources: Literature
Congenital Diarrhoea v1.6 SLC51B Zornitza Stark Phenotypes for gene: SLC51B were changed from Congenital diarrhoea; Cholestasis to Bile acid malabsorption, primary, 2, MIM# 619481; Congenital diarrhoea; Cholestasis
Congenital Diarrhoea v1.5 SLC51B Zornitza Stark edited their review of gene: SLC51B: Changed phenotypes: Bile acid malabsorption, primary, 2, MIM# 619481, Congenital diarrhoea, Cholestasis
Congenital Diarrhoea v1.5 STX3 Zornitza Stark Phenotypes for gene: STX3 were changed from Microvillus inclusion disease, MIM#619445 to Microvillus inclusion disease, MIM#619445; Retinal dystrophy and microvillus inclusion disease, MIM#619446
Congenital Diarrhoea v1.4 STX3 Zornitza Stark edited their review of gene: STX3: Changed phenotypes: Microvillus inclusion disease, MIM#619445, Retinal dystrophy and microvillus inclusion disease, MIM#619446
Congenital Diarrhoea v1.4 STX3 Zornitza Stark Phenotypes for gene: STX3 were changed from Microvillus inclusion disease to Microvillus inclusion disease, MIM#619445
Congenital Diarrhoea v1.3 STX3 Zornitza Stark edited their review of gene: STX3: Changed phenotypes: Microvillus inclusion disease, MIM#619445
Congenital Diarrhoea v1.3 UNC45A Zornitza Stark Phenotypes for gene: UNC45A were changed from Cholestasis; Diarrhoea; Bone fragility; Impaired hearing to Osteootohepatoenteric syndrome, MIM# 619377; Cholestasis; Diarrhoea; Bone fragility; Impaired hearing
Congenital Diarrhoea v1.2 UNC45A Zornitza Stark edited their review of gene: UNC45A: Changed phenotypes: Osteootohepatoenteric syndrome, MIM# 619377, Cholestasis, Diarrhoea, Bone fragility, Impaired hearing
Congenital Diarrhoea v1.0 SPINT2 Zornitza Stark changed review comment from: More than 15 unrelated families reported.; to: Well established gene-disease association. PMID 30445423 reviews 34 patients from 26 families: 13 different variants in SPINT2 were seen, including 3 premature termination codons, 2 start codon removals, and 3 canonical splice site variants, supporting loss of function as the pathogenic mechanism. The most commonly observed variant was Y163C, observed in 40 (59%) of 68 disease alleles. Seven unrelated patients with the Y163C mutation had a shared haplotype, suggesting that it is a founder mutation. Choanal atresia (20/34) and keratitis of infantile onset (26/34) were the most common findings. All patients presented with intractable diarrhoea, with onset typically in the first 2 weeks of life. Episodes of intestinal pseudoobstruction sometimes preceded the onset of diarrhoea. Characteristic epithelial tufts on intestinal histology were seen in 13 of the 34 patients.
Congenital Diarrhoea v1.0 Zornitza Stark promoted panel to version 1.0
Congenital Diarrhoea v0.102 STX3 Zornitza Stark Gene: stx3 has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.102 STX3 Zornitza Stark Phenotypes for gene: STX3 were changed from to Microvillus inclusion disease
Congenital Diarrhoea v0.99 STX3 Zornitza Stark reviewed gene: STX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24726755, 29266534, 25358429, 29282386, 30909251, 29282386; Phenotypes: Microvillus inclusion disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.99 SPINT2 Zornitza Stark Gene: spint2 has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.96 SLC9A3 Zornitza Stark Gene: slc9a3 has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.93 SLC7A7 Zornitza Stark Gene: slc7a7 has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.93 SLC7A7 Zornitza Stark Phenotypes for gene: SLC7A7 were changed from to Lysinuric protein intolerance, MIM# 222700
Congenital Diarrhoea v0.90 SLC7A7 Zornitza Stark reviewed gene: SLC7A7: Rating: GREEN; Mode of pathogenicity: None; Publications: 10080182, 18716612; Phenotypes: Lysinuric protein intolerance, MIM# 222700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.90 SLC5A1 Zornitza Stark Gene: slc5a1 has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.87 SLC39A4 Zornitza Stark Gene: slc39a4 has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.84 SLC2A2 Zornitza Stark Gene: slc2a2 has been classified as Red List (Low Evidence).
Congenital Diarrhoea v0.82 SLC2A2 Zornitza Stark Classified gene: SLC2A2 as Red List (low evidence)
Congenital Diarrhoea v0.82 SLC2A2 Zornitza Stark Gene: slc2a2 has been classified as Red List (Low Evidence).
Congenital Diarrhoea v0.81 SLC26A3 Zornitza Stark Gene: slc26a3 has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.78 SLC51B Zornitza Stark Gene: slc51b has been classified as Red List (Low Evidence).
Congenital Diarrhoea v0.78 SLC51B Zornitza Stark gene: SLC51B was added
gene: SLC51B was added to Congenital Diarrhoea. Sources: Expert Review
Mode of inheritance for gene: SLC51B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC51B were set to 28898457
Phenotypes for gene: SLC51B were set to Congenital diarrhoea; Cholestasis
Review for gene: SLC51B was set to RED
Added comment: Two siblings reported with homozygous LOF variant in this gene and congenital diarrhoea/cholestasis.
Sources: Expert Review
Congenital Diarrhoea v0.77 SLC10A2 Zornitza Stark Gene: slc10a2 has been classified as Red List (Low Evidence).
Congenital Diarrhoea v0.74 SLC10A2 Zornitza Stark Classified gene: SLC10A2 as Red List (low evidence)
Congenital Diarrhoea v0.74 SLC10A2 Zornitza Stark Gene: slc10a2 has been classified as Red List (Low Evidence).
Congenital Diarrhoea v0.73 SKIV2L Zornitza Stark Gene: skiv2l has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.70 SI Zornitza Stark Marked gene: SI as ready
Congenital Diarrhoea v0.70 SI Zornitza Stark Gene: si has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.70 SI Zornitza Stark Publications for gene: SI were set to
Congenital Diarrhoea v0.69 SI Zornitza Stark Phenotypes for gene: SI were changed from to Sucrase-isomaltase deficiency, congenital, MIM# 222900
Congenital Diarrhoea v0.68 SI Zornitza Stark Mode of inheritance for gene: SI was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.67 SI Zornitza Stark reviewed gene: SI: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sucrase-isomaltase deficiency, congenital, MIM# 222900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.67 SBDS Zornitza Stark Gene: sbds has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.65 SAR1B Zornitza Stark Gene: sar1b has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.63 PRSS1 Zornitza Stark Gene: prss1 has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.60 PLVAP Zornitza Stark Gene: plvap has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.60 PLVAP Zornitza Stark Phenotypes for gene: PLVAP were changed from to Diarrhoea 10, protein-losing enteropathy type, MIM# 618183
Congenital Diarrhoea v0.57 PLVAP Zornitza Stark reviewed gene: PLVAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 29875123, 29661969, 26207260, 31215290; Phenotypes: Diarrhea 10, protein-losing enteropathy type, MIM# 618183; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.57 PCSK1 Zornitza Stark Gene: pcsk1 has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.57 PCSK1 Zornitza Stark Phenotypes for gene: PCSK1 were changed from to Obesity with impaired prohormone processing, MIM# 600955
Congenital Diarrhoea v0.54 PCSK1 Zornitza Stark reviewed gene: PCSK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14617756, 17595246; Phenotypes: Obesity with impaired prohormone processing, MIM# 600955; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.54 NEUROG3 Zornitza Stark Gene: neurog3 has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.51 GUCY2C Zornitza Stark Gene: gucy2c has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.47 TMPRSS15 Zornitza Stark Gene: tmprss15 has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.44 TTC37 Zornitza Stark Gene: ttc37 has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.41 WNT2B Zornitza Stark Gene: wnt2b has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.38 STXBP2 Zornitza Stark Gene: stxbp2 has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.38 STXBP2 Zornitza Stark Classified gene: STXBP2 as Green List (high evidence)
Congenital Diarrhoea v0.38 STXBP2 Zornitza Stark Gene: stxbp2 has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.37 STXBP2 Zornitza Stark gene: STXBP2 was added
gene: STXBP2 was added to Congenital Diarrhoea. Sources: Expert Review
Mode of inheritance for gene: STXBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STXBP2 were set to 23382066; 28724787; 29266534
Phenotypes for gene: STXBP2 were set to Hemophagocytic lymphohistiocytosis, familial, 5, MIM# 613101; Enteropathy
Review for gene: STXBP2 was set to GREEN
Added comment: Variants in STXBP2 do not only affect cytotoxic T lymphocytes (causing HLH) but also cause changes in the intestinal epithelium resulting in severe, osmotic diarrhoea. More than 10 individuals reported with severe enteropathy, resembling MVID.
Sources: Expert Review
Congenital Diarrhoea v0.36 MYO5B Zornitza Stark Gene: myo5b has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.36 MYO5B Zornitza Stark Phenotypes for gene: MYO5B were changed from to Microvillus inclusion disease, MIM# 251850
Congenital Diarrhoea v0.33 MYO5B Zornitza Stark reviewed gene: MYO5B: Rating: GREEN; Mode of pathogenicity: None; Publications: 30564347, 29266534; Phenotypes: Microvillus inclusion disease, MIM# 251850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.33 MTTP Zornitza Stark Gene: mttp has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.30 LCT Zornitza Stark Gene: lct has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.28 FOXP3 Zornitza Stark Gene: foxp3 has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.26 EPCAM Zornitza Stark Gene: epcam has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.23 DGAT1 Zornitza Stark Gene: dgat1 has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.23 DGAT1 Zornitza Stark Phenotypes for gene: DGAT1 were changed from to Diarrhoea 7, protein-losing enteropathy type, MIM# 615863
Congenital Diarrhoea v0.20 DGAT1 Zornitza Stark reviewed gene: DGAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33261563, 32786057, 31778854, 28373485, 29604290; Phenotypes: Diarrhoea 7, protein-losing enteropathy type, MIM# 615863; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.20 CFTR Zornitza Stark Gene: cftr has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.20 CFTR Zornitza Stark Phenotypes for gene: CFTR were changed from to Cystic fibrosis, MIM# 219700
Congenital Diarrhoea v0.18 CFTR Zornitza Stark reviewed gene: CFTR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cystic fibrosis, MIM# 219700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.18 APOB Zornitza Stark Gene: apob has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.15 AIRE Zornitza Stark Gene: aire has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.15 AIRE Zornitza Stark Phenotypes for gene: AIRE were changed from to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300
Congenital Diarrhoea v0.12 AIRE Zornitza Stark reviewed gene: AIRE: Rating: GREEN; Mode of pathogenicity: None; Publications: 9398839, 9837820, 16965330; Phenotypes: Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300; Mode of inheritance: None
Congenital Diarrhoea v0.12 MPI Zornitza Stark Gene: mpi has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.12 MPI Zornitza Stark Classified gene: MPI as Green List (high evidence)
Congenital Diarrhoea v0.12 MPI Zornitza Stark Gene: mpi has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.11 MPI Zornitza Stark gene: MPI was added
gene: MPI was added to Congenital Diarrhoea. Sources: Expert Review
Mode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPI were set to 12414827; 9585601; 10980531; 33098580; 33204592; 32905087; 32266963; 30242110
Phenotypes for gene: MPI were set to Congenital disorder of glycosylation, type Ib, MIM# 602579; MPI-CDG MONDO:0011257
Review for gene: MPI was set to GREEN
Added comment: CDG Ib is clinically distinct from most other CDGs by the lack of significant central nervous system involvement. The predominant symptoms are chronic diarrhoea with failure to thrive and protein-losing enteropathy with coagulopathy. Some individuals develop hepatic fibrosis. CDG Ib is also different from other CDGs in that it can be treated effectively with oral mannose supplementation, but can be fatal if untreated.

Well established gene-disease association, numerous families reported.
Sources: Expert Review
Congenital Diarrhoea v0.10 AP1S1 Zornitza Stark Gene: ap1s1 has been classified as Amber List (Moderate Evidence).
Congenital Diarrhoea v0.10 AP1S1 Zornitza Stark Classified gene: AP1S1 as Amber List (moderate evidence)
Congenital Diarrhoea v0.10 AP1S1 Zornitza Stark Gene: ap1s1 has been classified as Amber List (Moderate Evidence).
Congenital Diarrhoea v0.9 AP1S1 Ee Ming Wong changed review comment from: - Established green gene in Ichthyosis, Palmoplantar Keratoderma and Erythrokeratoderma, ID and Hereditary Neuropathy (complex) panels associated 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 muta
Sources: Literature; to: - Established green gene in Ichthyosis, Palmoplantar Keratoderma and Erythrokeratoderma, ID and Hereditary Neuropathy (complex) panels associated 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 muta
Sources: Literature
Congenital Diarrhoea v0.9 AP1S1 Ee Ming Wong gene: AP1S1 was added
gene: AP1S1 was added to Congenital Diarrhoea. Sources: Literature
Mode of inheritance for gene: AP1S1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP1S1 were set to PMID: 32306098
Phenotypes for gene: AP1S1 were set to Non-syndromic congenital intestinal failure
Added comment: - Established green gene in Ichthyosis, Palmoplantar Keratoderma and Erythrokeratoderma, ID and Hereditary Neuropathy (complex) panels associated 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 muta
Sources: Literature
Congenital Diarrhoea v0.9 ABAT Zornitza Stark Gene: abat has been classified as Red List (Low Evidence).
Congenital Diarrhoea v0.7 ABAT Zornitza Stark Classified gene: ABAT as Red List (low evidence)
Congenital Diarrhoea v0.7 ABAT Zornitza Stark Gene: abat has been classified as Red List (Low Evidence).
Congenital Diarrhoea v0.6 UNC45A Zornitza Stark Gene: unc45a has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.6 UNC45A Zornitza Stark Phenotypes for gene: UNC45A were changed from to Cholestasis; Diarrhoea; Bone fragility; Impaired hearing
Congenital Diarrhoea v0.3 UNC45A Zornitza Stark reviewed gene: UNC45A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29429573; Phenotypes: Cholestasis, Diarrhoea, Bone fragility, Impaired hearing; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.3 ANO1 Zornitza Stark Gene: ano1 has been classified as Amber List (Moderate Evidence).
Congenital Diarrhoea v0.3 ANO1 Zornitza Stark Classified gene: ANO1 as Amber List (moderate evidence)
Congenital Diarrhoea v0.3 ANO1 Zornitza Stark Gene: ano1 has been classified as Amber List (Moderate Evidence).
Congenital Diarrhoea v0.2 ANO1 Zornitza Stark gene: ANO1 was added
gene: ANO1 was added to Congenital Diarrhoea. 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
Congenital Diarrhoea v0.0 SI Zornitza Stark gene: SI was added
gene: SI was added to Congenital Diarrhoea_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SI was set to Unknown