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Severe Paediatric Disorders v1.159 | DCC |
Ataf Sabir changed review comment from: could we consider upgrading this gene to green and add to gms available genes in light of emerging literature https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.61952 https://www.biorxiv.org/content/10.1101/2022.10.13.511954v1.abstract; to: could we consider upgrading this gene to green and add to gms available genes in light of emerging literature https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.61952 https://www.biorxiv.org/content/10.1101/2022.10.13.511954v1.abstract in relation to the condition HGPPS2 (See OMIM) there was only 1 report before, but evidence building now |
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Severe Paediatric Disorders v1.123 | PRODH | Sarah Leigh Added comment: Comment on list classification: Evidence for the association of PRODH variants with Hyperprolinemia, type I, OMIM; 239500 has been classified as Definitive by ClinGen Aminoacidopathy Gene Curation Expert Panel on 04/27/2021 (https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5f28c677-a9b4-4bb3-9aed-14af97ad9896-2021-04-27T160000.000Z). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.17 | HTT | Louise Daugherty Mode of inheritance for gene HTT was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | HTT | Louise Daugherty reviewed gene: HTT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | HTT | Louise Daugherty Publications for gene HTT were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | HTT | Louise Daugherty Added phenotypes Lopes-Maciel-Rodan syndrome, 617435; Huntington disease, 143100 for gene: HTT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | HTT | Louise Daugherty Added phenotypes Lopes-Maciel-Rodan syndrome, 617435; Huntington disease, 143100 for gene: HTT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | HTT | Louise Daugherty Added phenotypes Lopes-Maciel-Rodan syndrome, 617435; Huntington disease, 143100 for gene: HTT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | HTT | Louise Daugherty Added phenotypes Huntington disease, 143100; Lopes-Maciel-Rodan syndrome, 617435 for gene: HTT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | HTT | Louise Daugherty Source Next Generation Children Project was added to HTT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | HTT |
Louise Daugherty Source Expert Review Green was added to HTT. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | HTT |
Louise Daugherty gene: HTT was added gene: HTT was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: HTT was set to |