Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v6.7 | TAF1A | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: TAF1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v6.7 | TAF1A |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: TAF1A. Tag Q3_24_NHS_review was removed from gene: TAF1A. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v6.7 | TAF1A | Achchuthan Shanmugasundram reviewed gene: TAF1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v6.6 | TAF1A |
Achchuthan Shanmugasundram Source NHS GMS was added to TAF1A. Source Expert Review Green was added to TAF1A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v5.9 | TAF1A | Sarah Leigh Classified gene: TAF1A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v5.9 | TAF1A | Sarah Leigh Gene: taf1a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v5.8 | TAF1A | Sarah Leigh Added comment: Comment on phenotypes: PMID: 27878435 reports Congenital cataract and global developmental delay | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v5.8 | TAF1A | Sarah Leigh Phenotypes for gene: TAF1A were changed from Congenital cataract and global developmental delay to Paediatric dilated cardiomyopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v5.7 | TAF1A |
Sarah Leigh Tag Q3_24_promote_green tag was added to gene: TAF1A. Tag Q3_24_NHS_review tag was added to gene: TAF1A. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v5.7 | TAF1A | Sarah Leigh edited their review of gene: TAF1A: Added comment: Biallelic TAF1A variants have been associated with dilated cardiomyopathy. To date, five missense TAF1A variants and a 1.62Mb deletion (that includes the TAF1A gene) have been reported in three unrelated cases of childhood dilated cardiomyopathy (PMIDs 28472305; 29367541; 37501913, personal communication from Genomics Clinical Fellow). The unaffected parents of these cases were all heterozygous for the relevant TAF1A variant. A stable knockout of the single taf1a zebrafish homolog, was used to generate homozygous embryos, which mirrored the heart failure phenotype beginning at 6 days post-fertilization (PMID: 28472305).; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v5.7 | TAF1A | Sarah Leigh changed review comment from: Comment on publications: An abstract from Abstracts for the International Clinical Cardiovascular Genetics Meeting, 12-13 May 2022, Brisbane, Australia: https://doi.org/10.1016/j.hlc.2022.04.018; to: Comment on publications: The case reported in PMID: 37501913, seems to be the same patient that has been reported in an abstract from from the International Clinical Cardiovascular Genetics Meeting, 12-13 May 2022, Brisbane, Australia: https://doi.org/10.1016/j.hlc.2022.04.018 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v5.7 | TAF1A | Sarah Leigh Added comment: Comment on publications: An abstract from Abstracts for the International Clinical Cardiovascular Genetics Meeting, 12-13 May 2022, Brisbane, Australia: https://doi.org/10.1016/j.hlc.2022.04.018 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v5.7 | TAF1A | Sarah Leigh Publications for gene: TAF1A were set to 27878435 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v5.6 | TAF1A | Sarah Leigh Entity copied from Bilateral congenital or childhood onset cataracts v5.1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v5.6 | TAF1A |
Sarah Leigh gene: TAF1A was added gene: TAF1A was added to Paediatric or syndromic cardiomyopathy. Sources: Expert Review Red,Literature Mode of inheritance for gene: TAF1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAF1A were set to 27878435 Phenotypes for gene: TAF1A were set to Congenital cataract and global developmental delay |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||