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| Renal tubulopathies v3.3 | CNNM2 |
Sarah Leigh Tag Q3_22_rating was removed from gene: CNNM2. Tag Q3_22_MOI was removed from gene: CNNM2. Tag Q3_22_NHS_review was removed from gene: CNNM2. |
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| Renal tubulopathies v3.3 | CNNM2 | Sarah Leigh reviewed gene: CNNM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v3.2 | CNNM2 |
Sarah Leigh Source Expert Review Green was added to CNNM2. Source NHS GMS was added to CNNM2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Renal tubulopathies v2.59 | CNNM2 | Eleanor Williams Classified gene: CNNM2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.59 | CNNM2 | Eleanor Williams Added comment: Comment on list classification: Promoting this gene from grey to amber but with a recommendation of GREEN rating following GMS review. Many monoallelic cases reported plus 2 biallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.59 | CNNM2 | Eleanor Williams Gene: cnnm2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.58 | CNNM2 |
Eleanor Williams Tag Q3_22_rating tag was added to gene: CNNM2. Tag Q3_22_MOI tag was added to gene: CNNM2. Tag Q3_22_NHS_review tag was added to gene: CNNM2. |
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| Renal tubulopathies v2.58 | CNNM2 | Eleanor Williams Phenotypes for gene: CNNM2 were changed from hypomagnesaemia; seizures; intellectual disability to Hypomagnesemia 6, renal, OMIM:613882; Hypomagnesemia, seizures, and mental retardation, OMIM:616418; renal hypomagnesemia 6, MONDO:0013480; Hypomagnesemia, seizures, and mental retardation, MONDO:0014631 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.57 | CNNM2 | Eleanor Williams Publications for gene: CNNM2 were set to PMID: 33600043; 30026055; 32997713; 34604137; 33859252; 24699222; 35002148; 21397062 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.56 | CNNM2 | Eleanor Williams Added comment: Comment on mode of pathogenicity: There is a mix of missense and truncating variants reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.56 | CNNM2 | Eleanor Williams Mode of pathogenicity for gene: CNNM2 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.55 | CNNM2 | Eleanor Williams Mode of inheritance for gene: CNNM2 was changed from Other to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.54 | CNNM2 | Eleanor Williams reviewed gene: CNNM2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypomagnesemia 6, renal, OMIM:613882, Hypomagnesemia, seizures, and mental retardation, OMIM:616418, renal hypomagnesemia 6, MONDO:0013480; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.54 | CNNM2 |
Detlef Bockenhauer gene: CNNM2 was added gene: CNNM2 was added to Renal tubulopathies. Sources: Expert list Mode of inheritance for gene: CNNM2 was set to Other Publications for gene: CNNM2 were set to PMID: 33600043; 30026055; 32997713; 34604137; 33859252; 24699222; 35002148; 21397062 Phenotypes for gene: CNNM2 were set to hypomagnesaemia; seizures; intellectual disability Penetrance for gene: CNNM2 were set to Complete Mode of pathogenicity for gene: CNNM2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: CNNM2 was set to GREEN Added comment: described with dominant and recessive inheritance (associated with phenotype severity), but mostly with heterozygous de novo variants Sources: Expert list |
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