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| Neonatal diabetes v2.57 | FICD |
Eleanor Williams changed review comment from: Gene does not appear to be in OMIM. As expert reviewer reports the pre-print by Perera et al 2022 report 5 individuals, from 3 consanguineous families, diagnosed with infancy-onset diabetes mellitus and neurodevelopmental abnormalities (4/5 had severe developmental delay). All were found to have a homozygous variant p.(Arg371Ser) mutation in FICD. Family 1 and Family 3 where found to share a 4.5Mb haplotype that includes FICD which suggests the variant was inherited from a common distant ancestor. Functional studies showed that the variant partially compromises BiP AMPylation in vitro and eliminates all detectable deAMPylation activity.; to: Gene does not appear to be in OMIM. As expert reviewer reports the pre-print by Perera et al 2022 report 5 individuals, from 3 consanguineous families, diagnosed with infancy-onset diabetes mellitus and neurodevelopmental abnormalities (4/5 had severe developmental delay). Age of diabetes onset was a mean of 29 weeks (range 12-43). All were found to have a homozygous variant p.(Arg371Ser) mutation in FICD. Family 1 and Family 3 where found to share a 4.5Mb haplotype that includes FICD which suggests the variant was inherited from a common distant ancestor. Functional studies showed that the variant partially compromises BiP AMPylation in vitro and eliminates all detectable deAMPylation activity. |
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| Neonatal diabetes v2.53 | FICD | Eleanor Williams Tag watchlist tag was added to gene: FICD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes v2.53 | FICD | Eleanor Williams Classified gene: FICD as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes v2.53 | FICD |
Eleanor Williams Added comment: Comment on list classification: Promoting from red to amber, but with a watchlist tag added. 3 cases reported but all with the same variant and 2 families share a common haplotype. Some functional data. In addition the paper is still at the pre-print stage and so has not yet been peer reviewed. |
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| Neonatal diabetes v2.53 | FICD | Eleanor Williams Gene: ficd has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes v2.52 | FICD | Eleanor Williams Phenotypes for gene: FICD were changed from to Neonatal diabetes; Neonatal insulin-dependent diabetes mellitus, HP:0000857; severe neurodevelopmental delay, HP:0012758; skeletal abnormalities. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes v2.51 | FICD | Eleanor Williams Mode of inheritance for gene: FICD was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes v2.50 | FICD |
Eleanor Williams commented on gene: FICD: Gene does not appear to be in OMIM. As expert reviewer reports the pre-print by Perera et al 2022 report 5 individuals, from 3 consanguineous families, diagnosed with infancy-onset diabetes mellitus and neurodevelopmental abnormalities (4/5 had severe developmental delay). All were found to have a homozygous variant p.(Arg371Ser) mutation in FICD. Family 1 and Family 3 where found to share a 4.5Mb haplotype that includes FICD which suggests the variant was inherited from a common distant ancestor. Functional studies showed that the variant partially compromises BiP AMPylation in vitro and eliminates all detectable deAMPylation activity. |
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| Neonatal diabetes v2.40 | FICD | Eleanor Williams reviewed gene: FICD: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: Neonatal diabetes, severe neurodevelopmental delay and skeletal abnormalities.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes v2.39 | FICD |
Eleanor Williams gene: FICD was added gene: FICD was added to Diabetes - neonatal onset. Sources: Expert review Mode of inheritance for gene: FICD was set to |
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