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| Monogenic Diabetes v0.197 | NFKB1 |
Chirag Patel gene: NFKB1 was added gene: NFKB1 was added to Monogenic Diabetes. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NFKB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NFKB1 were set to 26279205; 32278790; 27022143; 7834752 Phenotypes for gene: NFKB1 were set to Immunodeficiency, common variable, 12 MIM# 616576; Normal-low IgG, IgA, IgM; low-normal B cells; low switched memory B cells; hypogammaglobulinaemia; recurrent respiratory and gastrointestinal infections; Chronic obstructive pulmonary disease COPD; EBV proliferation; autoimmunity; alopecia |
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| Monogenic Diabetes v0.194 | ITCH | Chirag Patel Marked gene: ITCH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.194 | ITCH | Chirag Patel Gene: itch has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.194 | ITCH | Chirag Patel Publications for gene: ITCH were set to 20170897; 31091003; 32356405 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.193 | ITCH | Chirag Patel reviewed gene: ITCH: Rating: GREEN; Mode of pathogenicity: None; Publications: 20170897,30705142,33894394; Phenotypes: Syndromic multisystem autoimmune disease due to ITCH deficiency, MONDO:0013245; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.193 | ITCH | Chirag Patel Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.193 | ITCH |
Chirag Patel changed review comment from: ClinGen DEFINITIVE (Oct 2025) https://search.clinicalgenome.org/CCID:009048; to: ClinGen DEFINITIVE (Oct 2025) https://search.clinicalgenome.org/CCID:009048 3 individuals from 3 unrelated families with type 1 diabetes (elevated islet-cell antibodies, GAD antibodies, and insulin autoantibodies) and multisystem autoimmune disease, dysmorphic features, and developmental abnormalities. |
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| Monogenic Diabetes v0.193 | Chirag Patel Copied gene ITCH from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.193 | ITCH |
Chirag Patel gene: ITCH was added gene: ITCH was added to Monogenic Diabetes. Sources: Expert Review Green,Expert Review Green,Victorian Clinical Genetics Services founder tags were added to gene: ITCH. Mode of inheritance for gene: ITCH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITCH were set to 20170897; 31091003; 32356405 Phenotypes for gene: ITCH were set to Syndromic multisystem autoimmune disease due to ITCH deficiency, MONDO:0013245 |
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| Monogenic Diabetes v0.0 | RFX6 |
Zornitza Stark gene: RFX6 was added gene: RFX6 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: RFX6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RFX6 were set to 27167055; 27185633; 26770845; 26761945; 26264437; 26559129; 25048417 Phenotypes for gene: RFX6 were set to Mitchell-Riley syndrome, 615710; Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities; recessive syndromic diabetes and autosomal dominant MODY |
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