Activity
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13 actions
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| Paediatric disorders - additional genes v6.13 | ZNRF3 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: ZNRF3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v6.12 | ZNRF3 | Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ZNRF3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v6.12 | ZNRF3 | Achchuthan Shanmugasundram commented on gene: ZNRF3: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v6.11 | ZNRF3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ZNRF3. Source NHS GMS was added to ZNRF3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Paediatric disorders - additional genes v5.8 | ZNRF3 | Achchuthan Shanmugasundram Classified gene: ZNRF3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v5.8 | ZNRF3 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are eight individuals reported with complex neurodevelopmental disorder and four patients reported with congenital heart defects. There are only two patients with moderate intellectual disability and hence the evidence is not sufficient for this gene to be rated green on the intellectual disability panel. This gene is therefore being added to this panel for patients with variants in this gene to be picked by the Paediatric disorders WGS clinical indication. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v5.8 | ZNRF3 | Achchuthan Shanmugasundram Gene: znrf3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v5.7 | ZNRF3 | Achchuthan Shanmugasundram Phenotypes for gene: ZNRF3 were changed from complex neurodevelopmental disorder, MONDO:0100038; congenital heart disease, MONDO:0005453 to complex neurodevelopmental disorder, MONDO:0100038; congenital heart disease, MONDO:0005453 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v5.7 | ZNRF3 | Achchuthan Shanmugasundram Phenotypes for gene: ZNRF3 were changed from complex neurodevelopmental disorder, MONDO:0100038 to complex neurodevelopmental disorder, MONDO:0100038; congenital heart disease, MONDO:0005453 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v5.6 | ZNRF3 | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ZNRF3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v5.6 | ZNRF3 | Achchuthan Shanmugasundram edited their review of gene: ZNRF3: Changed phenotypes to: complex neurodevelopmental disorder, MONDO:0100038, congenital heart disease, MONDO:0005453 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v5.6 | ZNRF3 | Achchuthan Shanmugasundram edited their review of gene: ZNRF3: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v5.6 | ZNRF3 |
Achchuthan Shanmugasundram gene: ZNRF3 was added gene: ZNRF3 was added to Paediatric disorders - additional genes. Sources: Literature Mode of inheritance for gene: ZNRF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZNRF3 were set to 39168120 Phenotypes for gene: ZNRF3 were set to complex neurodevelopmental disorder, MONDO:0100038 Review for gene: ZNRF3 was set to AMBER Added comment: PMID:39168120 reported 12 individuals from 11 families with heterozygous de novo variants in ZNRF3 gene (the variant was inherited only in the son of a father-son pair) and presented with various phenotypes. Eight of these individuals harboured missense variants and displayed a complex neurodevelopmental disorder, of which missense variants clustered in the RING ligase domain are associated with macrocephalic NDD. In contrast, four individuals harbouring de novo truncating or de novo or inherited large in-frame deletion variants presented with non-NDD phenotypes, including heart, adrenal, or nephrotic problems. Overall, 4 individuals had congenital heart defects, 2 had moderate intellectual disability and 2 had microcephaly. There is also supporting functional evidence available from in vitro assays. This gene has not yet been associated with any relevant phenotypes either in OMIM or in Gene2Phenotype. Sources: Literature |
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