| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Neonatal diabetes v4.6 | CNOT1 | Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE was removed from gene: CNOT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes v4.6 | CNOT1 | Sarah Leigh reviewed gene: CNOT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes v4.5 | CNOT1 |
Achchuthan Shanmugasundram Source NHS GMS was added to CNOT1. Source Expert Review Green was added to CNOT1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Neonatal diabetes v4.4 | CNOT1 |
Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: CNOT1. Tag Q3_22_NHS_review was removed from gene: CNOT1. Tag Q3_22_expert_review was removed from gene: CNOT1. |
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| Neonatal diabetes v3.3 | CNOT1 | Arina Puzriakova Tag to_be_confirmed_NHSE tag was added to gene: CNOT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes v3.3 | CNOT1 | Arina Puzriakova commented on gene: CNOT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes v2.50 | CNOT1 | Eleanor Williams Tag Q3_22_NHS_review tag was added to gene: CNOT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes v2.45 | CNOT1 | Eleanor Williams changed review comment from: Comment on list classification: Promoting from red to amber with a recommendation for consideration of green rating following expert GMS review.; to: Comment on list classification: Promoting from red to amber with a recommendation for consideration of green rating following expert GMS review, however the pancreatic agenesis is associated with one missense variant only. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes v2.45 | CNOT1 |
Eleanor Williams Tag Q3_22_rating tag was added to gene: CNOT1. Tag Q3_22_expert_review tag was added to gene: CNOT1. |
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| Neonatal diabetes v2.45 | CNOT1 | Eleanor Williams Classified gene: CNOT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes v2.45 | CNOT1 | Eleanor Williams Added comment: Comment on list classification: Promoting from red to amber with a recommendation for consideration of green rating following expert GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes v2.45 | CNOT1 | Eleanor Williams Gene: cnot1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes v2.44 | CNOT1 | Eleanor Williams Phenotypes for gene: CNOT1 were changed from to Holoprosencephaly 12, with or without pancreatic agenesis, OMIM:618500; holoprosencephaly 12 with or without pancreatic agenesis, MONDO:0032787 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes v2.43 | CNOT1 | Eleanor Williams Publications for gene: CNOT1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes v2.42 | CNOT1 | Eleanor Williams Added comment: Comment on mode of pathogenicity: Only one missense variant reported in all cases. All de novo. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes v2.42 | CNOT1 | Eleanor Williams Mode of pathogenicity for gene: CNOT1 was changed from to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes v2.41 | CNOT1 | Eleanor Williams Mode of inheritance for gene: CNOT1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes v2.40 | CNOT1 |
Eleanor Williams commented on gene: CNOT1: Associated with Holoprosencephaly 12, with or without pancreatic agenesis, 618500 (AD) in OMIM and HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS (strong) in Gene2Phenotype. 3 publications reporting 6 unrelated probands with the same de novo missense variant in CNOT and a holoprosencephaly phenotype. 5/6 also had pancreatic agenesis. PMID:35481434 - Cospain et al 2022 - report a foetus with semi-lobar HPE diagnosed at ultrasound and total pancreas agenesis identified at general autopsy. WES found the CNOT1 missense c.1603C>T, p.(Arg535Cys), occurring de novo. PMID:31006513 - de Franco et al 2019 - looked at an international cohort of 107 individuals diagnosed with pancreatic agenesis and identified 3 unrelated individuals with CNOT1 variant c.1603C>T [p.Arg535Cys]. In 2 patients it was confirmed as de novo (maternal DNA not available for the 3rd). 2 of the patients had definite holoprosencephaly and one had possible holoprosencephaly. They report that the DDD study5 has identified other de novo CNOT1 variants in three individuals with developmental delay (2 missense and 1 nonsense) but none of them had holoprosencephaly or diabetes. Mice heterozygous for p.Arg535Cys variant showed no phenotype, but homozygotes (embryonically lethal) were found to have significant reduction in the size of the pancreas and neurological abnormalities. PMID:31006510 - Kruszka et al 2019 - 2 unrelated individuals with semilobar holoprosencephaly with de novo variants in CNOT1 (c.1603C>T [p.Arg535Cys]) identified by WES. Both probands also presented with hearing loss and global developmental delay. Proband 1 also had diabetes insipidus, neonatal diabetes mellitus requiring insulin, pancreatic exocrine insufficiency requiring enzyme therapy. |
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| Neonatal diabetes v2.40 | CNOT1 | Eleanor Williams reviewed gene: CNOT1: Rating: ; Mode of pathogenicity: ; Publications: 31006513, 35481434, 31006510; Phenotypes: Neonatal diabetes, pancreatic agenesis and holoprosencephaly.; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes v2.39 | CNOT1 |
Eleanor Williams gene: CNOT1 was added gene: CNOT1 was added to Diabetes - neonatal onset. Sources: Expert review Mode of inheritance for gene: CNOT1 was set to |
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