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| Monogenic Diabetes v1.0 | NEUROD1 | Gene migrated from ENSG00000162992 to ENSG00000162992 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.191 | NEUROD1 |
Chirag Patel changed review comment from: ClinGen DEFINITIVE (Mar 2021) https://search.clinicalgenome.org/CCID:005622 At least 5 variants (missense and nonsense) have been reported in at least 8 probands in association with a phenotype consisting of neonatal diabetes, intrauterine growth retardation, cerebellar hypoplasia, sensorineural deafness, visual impairment, and intellectual disability. This gene-disease relationship is supported by functional assays, expression studies, and animal models. Note: ClinGen LIMITED (Oct 2021) for autosomal dominant NEUROD1-related diabetes.; to: ClinGen MODERATE (Mar 2021) https://search.clinicalgenome.org/CCID:005622 At least 5 variants (missense and nonsense) have been reported in at least 8 probands in association with a phenotype consisting of neonatal diabetes, intrauterine growth retardation, cerebellar hypoplasia, sensorineural deafness, visual impairment, and intellectual disability. This gene-disease relationship is supported by functional assays, expression studies, and animal models. Note: ClinGen LIMITED (Oct 2021) for autosomal dominant NEUROD1-related diabetes. |
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| Monogenic Diabetes v0.191 | NEUROD1 | Chirag Patel Publications for gene: NEUROD1 were set to 20573748; 10545951; 26773576; 26669242; 20573748; 12200761; 30259503 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.190 | NEUROD1 | Chirag Patel Phenotypes for gene: NEUROD1 were changed from maturity-onset diabetes of the young type 6 MONDO:0011668 to Monogenic diabetes, MONDO:0015967 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.189 | NEUROD1 | Chirag Patel Publications for gene: NEUROD1 were set to 20573748; 10545951; 26773576; 26669242 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.188 | NEUROD1 | Chirag Patel reviewed gene: NEUROD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29521454, 20573748, 12200761, 30259503; Phenotypes: Monogenic diabetes, MONDO:0015967; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.108 | NEUROD1 | Zornitza Stark Marked gene: NEUROD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.108 | NEUROD1 | Zornitza Stark Gene: neurod1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.108 | NEUROD1 | Zornitza Stark Phenotypes for gene: NEUROD1 were changed from MODY6; Maturity-Onset Diabetes Of The Young; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6; {Diabetes mellitus, noninsulin-dependent}, 125853; Maturity Onset Diabetes of the Young; Maturity-onset diabetes of the young 6, 606394; Permanent neonatal diabetes and cerebellar agenesis to maturity-onset diabetes of the young type 6 MONDO:0011668 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.107 | NEUROD1 | Hali Van Niel reviewed gene: NEUROD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22784109, 29521454, 10545951, 11575290; Phenotypes: maturity-onset diabetes of the young type 6 MONDO:0011668; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.0 | NEUROD1 |
Zornitza Stark gene: NEUROD1 was added gene: NEUROD1 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NEUROD1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: NEUROD1 were set to 20573748; 10545951; 26773576; 26669242 Phenotypes for gene: NEUROD1 were set to MODY6; Maturity-Onset Diabetes Of The Young; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6; {Diabetes mellitus, noninsulin-dependent}, 125853; Maturity Onset Diabetes of the Young; Maturity-onset diabetes of the young 6, 606394; Permanent neonatal diabetes and cerebellar agenesis |
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