Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Neonatal diabetes v3.3 | ZNF808 | Eleanor Williams Tag gene-checked tag was added to gene: ZNF808. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neonatal diabetes v3.3 | ZNF808 |
Arina Puzriakova Tag Q3_22_rating was removed from gene: ZNF808. Tag Q3_22_NHS_review was removed from gene: ZNF808. |
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Neonatal diabetes v3.3 | ZNF808 | Arina Puzriakova reviewed gene: ZNF808: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neonatal diabetes v3.2 | ZNF808 |
Arina Puzriakova Source Expert Review Green was added to ZNF808. Source NHS GMS was added to ZNF808. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Neonatal diabetes v2.60 | ZNF808 | Eleanor Williams Classified gene: ZNF808 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neonatal diabetes v2.60 | ZNF808 | Eleanor Williams Added comment: Comment on list classification: Promoting from red to amber, with a recommendation for GREEN rating following GMs review. Paper not yet published but from GLH source. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neonatal diabetes v2.60 | ZNF808 | Eleanor Williams Gene: znf808 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neonatal diabetes v2.59 | ZNF808 | Eleanor Williams Phenotypes for gene: ZNF808 were changed from to neonatal diabetes mellitus, MONDO:0016391; pancreatic agenesis, MONDO:0009832 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neonatal diabetes v2.58 | ZNF808 | Eleanor Williams Mode of inheritance for gene: ZNF808 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neonatal diabetes v2.57 | ZNF808 |
Eleanor Williams Tag Q3_22_rating tag was added to gene: ZNF808. Tag Q3_22_NHS_review tag was added to gene: ZNF808. |
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Neonatal diabetes v2.57 | ZNF808 |
Eleanor Williams changed review comment from: The ZNF808 gene does not appear in OMIM and there is no gene-disease association for this gene in Gene2Phenotype. As the reviewer describes, De Franco et al 2022 (https://www.medrxiv.org/content/10.1101/2021.08.23.21262262v1) report 12 unrelated cases of probands with neonatal diabetes before the age of 6 months in which homozygous variants in ZNF808 have been identified. These were initially identified in 2 unrelated probands from consanguineous unions and then 232 additional neonatal diabetes patients without and identified cause were screened for variants in ZNF808 and a further 10 cases were identified. A variety of variants were identified including deletions (exons 4 and 5, whole gene deletion), nonsense and frameshift variants. Although this paper is not yet published it is from well respected authors including members of the Exeter Genomic Laboratory Hub.; to: The ZNF808 gene does not appear in OMIM and there is no gene-disease association for this gene in Gene2Phenotype. As the reviewer describes, De Franco et al 2022 (https://www.medrxiv.org/content/10.1101/2021.08.23.21262262v1) report 12 unrelated cases of probands with neonatal diabetes before the age of 6 months in which homozygous variants in ZNF808 have been identified. These were initially identified in 2 unrelated probands from consanguineous unions and then 232 additional neonatal diabetes patients without an identified cause were screened for variants in ZNF808 and a further 10 cases were identified. A variety of variants were identified including deletions (exons 4 and 5, whole gene deletion), nonsense and frameshift variants. Although this paper is not yet published it is from well respected authors including members of the Exeter Genomic Laboratory Hub. |
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Neonatal diabetes v2.57 | ZNF808 |
Eleanor Williams changed review comment from: The ZNF808 gene does not appear in OMIM and there is no gene-disease association for this gene in Gene2Phenotype. As the reviewer describes, De Franco et al 2022 (https://www.medrxiv.org/content/10.1101/2021.08.23.21262262v1) there are 12 unrelated cases of probands with neonatal diabetes before the age of 6 months in which homozygous variants in ZNF808 have been identified. These were initially identified in 2 unrelated probands from consanguineous unions and then 232 additional neonatal diabetes patients without and identified cause were screened for variants in ZNF808 and a further 10 cases were identified. A variety of variants were identified including deletions (exons 4 and 5, whole gene deletion), nonsense and frameshift variants. Although this paper is not yet published it is from well respected authors including members of the Exeter Genomic Laboratory Hub.; to: The ZNF808 gene does not appear in OMIM and there is no gene-disease association for this gene in Gene2Phenotype. As the reviewer describes, De Franco et al 2022 (https://www.medrxiv.org/content/10.1101/2021.08.23.21262262v1) report 12 unrelated cases of probands with neonatal diabetes before the age of 6 months in which homozygous variants in ZNF808 have been identified. These were initially identified in 2 unrelated probands from consanguineous unions and then 232 additional neonatal diabetes patients without and identified cause were screened for variants in ZNF808 and a further 10 cases were identified. A variety of variants were identified including deletions (exons 4 and 5, whole gene deletion), nonsense and frameshift variants. Although this paper is not yet published it is from well respected authors including members of the Exeter Genomic Laboratory Hub. |
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Neonatal diabetes v2.57 | ZNF808 |
Eleanor Williams edited their review of gene: ZNF808: Added comment: The ZNF808 gene does not appear in OMIM and there is no gene-disease association for this gene in Gene2Phenotype. As the reviewer describes, De Franco et al 2022 (https://www.medrxiv.org/content/10.1101/2021.08.23.21262262v1) there are 12 unrelated cases of probands with neonatal diabetes before the age of 6 months in which homozygous variants in ZNF808 have been identified. These were initially identified in 2 unrelated probands from consanguineous unions and then 232 additional neonatal diabetes patients without and identified cause were screened for variants in ZNF808 and a further 10 cases were identified. A variety of variants were identified including deletions (exons 4 and 5, whole gene deletion), nonsense and frameshift variants. Although this paper is not yet published it is from well respected authors including members of the Exeter Genomic Laboratory Hub.; Changed phenotypes to: neonatal diabetes mellitus, MONDO:0016391, pancreatic agenesis, MONDO:0009832 |
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Neonatal diabetes v2.40 | ZNF808 | Eleanor Williams reviewed gene: ZNF808: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: Neonatal diabetes, pancreatic agenesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neonatal diabetes v2.39 | ZNF808 |
Eleanor Williams gene: ZNF808 was added gene: ZNF808 was added to Diabetes - neonatal onset. Sources: Expert review Mode of inheritance for gene: ZNF808 was set to |