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| Neonatal diabetes v3.3 | EIF2B1 |
Arina Puzriakova Tag Q3_22_rating was removed from gene: EIF2B1. Tag Q3_22_NHS_review was removed from gene: EIF2B1. |
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| Neonatal diabetes v3.3 | EIF2B1 | Arina Puzriakova reviewed gene: EIF2B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes v3.2 | EIF2B1 |
Arina Puzriakova Source Expert Review Green was added to EIF2B1. Source NHS GMS was added to EIF2B1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Neonatal diabetes v2.57 | EIF2B1 |
Eleanor Williams changed review comment from: Associated with Leukoencephalopathy with vanishing white matter, #603896 (AR) in OMIM. As expert reviewer reports De Franco et al 2020 (PMID:31882561) screened patients with Permanent neonatal diabetes (PNDM) and early onset diabetes using a targeted next generation sequencing assay, including the known monogenic diabetes genes and additional candidate genes, such as EIF2B1. 5 de novo EIF2B1 variants were identified, p.(Gly44Asp), p.(Gly44Val), p.(Ser77Asn), p.(Leu34Trp), p.(*306Thrext*12). The patients do not exhibit severe neurological features seen in cases with homozygous variants in EIF2B1 but two reported cases displayed mild learning disability or attention deficit disorder.; to: Associated with Leukoencephalopathy with vanishing white matter, #603896 (AR) in OMIM. As expert reviewer reports De Franco et al 2020 (PMID:31882561) screened patients with Permanent neonatal diabetes (PNDM) and early onset diabetes using a targeted next generation sequencing assay, including the known monogenic diabetes genes and additional candidate genes, such as EIF2B1. 5 de novo EIF2B1 variants were identified, p.(Gly44Asp), p.(Gly44Val), p.(Ser77Asn), p.(Leu34Trp), p.(*306Thrext*12). Onset of diabetes was at 21 weeks or less in 4 patients, and at 56 weeks in the 5th. The patients do not exhibit severe neurological features seen in cases with homozygous variants in EIF2B1 but two reported cases displayed mild learning disability or attention deficit disorder. |
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| Neonatal diabetes v2.50 | EIF2B1 |
Eleanor Williams Tag Q3_22_rating tag was added to gene: EIF2B1. Tag Q3_22_NHS_review tag was added to gene: EIF2B1. |
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| Neonatal diabetes v2.50 | EIF2B1 | Eleanor Williams Classified gene: EIF2B1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes v2.50 | EIF2B1 | Eleanor Williams Gene: eif2b1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes v2.49 | EIF2B1 | Eleanor Williams Classified gene: EIF2B1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes v2.49 | EIF2B1 | Eleanor Williams Added comment: Comment on list classification: Promoting to amber, but with a recommendation for green status. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes v2.49 | EIF2B1 | Eleanor Williams Gene: eif2b1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes v2.48 | EIF2B1 | Eleanor Williams Phenotypes for gene: EIF2B1 were changed from to Permanent neonatal/early onset diabetes and transient liver dysfunction | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes v2.47 | EIF2B1 | Eleanor Williams Publications for gene: EIF2B1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes v2.46 | EIF2B1 | Eleanor Williams Mode of inheritance for gene: EIF2B1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes v2.45 | EIF2B1 |
Eleanor Williams commented on gene: EIF2B1: Associated with Leukoencephalopathy with vanishing white matter, #603896 (AR) in OMIM. As expert reviewer reports De Franco et al 2020 (PMID:31882561) screened patients with Permanent neonatal diabetes (PNDM) and early onset diabetes using a targeted next generation sequencing assay, including the known monogenic diabetes genes and additional candidate genes, such as EIF2B1. 5 de novo EIF2B1 variants were identified, p.(Gly44Asp), p.(Gly44Val), p.(Ser77Asn), p.(Leu34Trp), p.(*306Thrext*12). The patients do not exhibit severe neurological features seen in cases with homozygous variants in EIF2B1 but two reported cases displayed mild learning disability or attention deficit disorder. |
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| Neonatal diabetes v2.40 | EIF2B1 | Eleanor Williams reviewed gene: EIF2B1: Rating: ; Mode of pathogenicity: ; Publications: 31882561; Phenotypes: Permanent neonatal/early onset diabetes and transient liver dysfunction.; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes v2.39 | EIF2B1 |
Eleanor Williams gene: EIF2B1 was added gene: EIF2B1 was added to Diabetes - neonatal onset. Sources: Expert review Mode of inheritance for gene: EIF2B1 was set to |
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