| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Proteinuric renal disease v2.72 | GON7 | Eleanor Williams Tag for-review was removed from gene: GON7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.66 | GON7 | Eleanor Williams commented on gene: GON7: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.65 | GON7 |
Eleanor Williams Source Expert Review Green was added to GON7. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Proteinuric renal disease v2.44 | GON7 |
Eleanor Williams Tag for-reivew was removed from gene: GON7. Tag for-review tag was added to gene: GON7. |
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| Proteinuric renal disease v2.43 | GON7 | Eleanor Williams changed review comment from: Comment on list classification: Promoting from grey to amber, based on 4 related cases (founder effect) plus one other case plus some functional data. At the next GMS review it should be considered for green rating based on the external expert review.; to: Comment on list classification: Promoting from grey to amber, based on 4 related cases (founder effect) plus one other case plus some functional data. At the next GMS review it could be considered for green rating based on the external expert review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.43 | GON7 | Eleanor Williams changed review comment from: Comment on list classification: Promoting from grey to amber, based on 2 cases plus some functional data. At the next GMS review it should be considered for green rating based on the external expert review.; to: Comment on list classification: Promoting from grey to amber, based on 4 related cases (founder effect) plus one other case plus some functional data. At the next GMS review it should be considered for green rating based on the external expert review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.43 | GON7 | Eleanor Williams Classified gene: GON7 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.43 | GON7 | Eleanor Williams Added comment: Comment on list classification: Promoting from grey to amber, based on 2 cases plus some functional data. At the next GMS review it should be considered for green rating based on the external expert review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.43 | GON7 | Eleanor Williams Gene: gon7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.42 | GON7 | Eleanor Williams Phenotypes for gene: GON7 were changed from Galloway-Mowat syndrome to Galloway-Mowat syndrome MONDO:0009627 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.41 | GON7 |
Eleanor Williams Tag founder-effect tag was added to gene: GON7. Tag for-reivew tag was added to gene: GON7. |
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| Proteinuric renal disease v2.41 | GON7 | Eleanor Williams reviewed gene: GON7: Rating: AMBER; Mode of pathogenicity: None; Publications: 31481669; Phenotypes: Galloway-Mowat syndrome MONDO:0009627; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.26 | GON7 |
Zornitza Stark gene: GON7 was added gene: GON7 was added to Proteinuric renal disease. Sources: Literature Mode of inheritance for gene: GON7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GON7 were set to 31481669 Phenotypes for gene: GON7 were set to Galloway-Mowat syndrome Review for gene: GON7 was set to GREEN gene: GON7 was marked as current diagnostic Added comment: 11 individuals from 5 families. Four of the families had the same homozygous variant, shared haplotype suggestive of founder effect. Clinical features included proteinuria, microcephaly, brain malformations and developmental delay. Supportive functional data. Sources: Literature |
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