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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.
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)
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.
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.
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.
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
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