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| Extreme early-onset hypertension v1.18 | TTC21B | Eleanor Williams Phenotypes for gene: TTC21B were changed from Hypertension; focal segmental glomerulosclerosis; nephronopthisis; myopia to Hypertension; focal segmental glomerulosclerosis; nephronopthisis; myopia; Nephronophthisis 12, OMIM:613820 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Extreme early-onset hypertension v1.17 | TTC21B | Eleanor Williams Publications for gene: TTC21B were set to 24876116; 26940125; 34957165; 34805047 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Extreme early-onset hypertension v1.16 | TTC21B | Eleanor Williams Classified gene: TTC21B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Extreme early-onset hypertension v1.16 | TTC21B | Eleanor Williams Added comment: Comment on list classification: Promoting this gene to green as there are sufficient cases in which hypertension is a characteristic of the disease phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Extreme early-onset hypertension v1.16 | TTC21B | Eleanor Williams Gene: ttc21b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Extreme early-onset hypertension v1.15 | TTC21B | Eleanor Williams reviewed gene: TTC21B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Extreme early-onset hypertension v1.14 | TTC21B | John Sayer edited their review of gene: TTC21B: Added comment: Careful literature review supports the notion that biallelic, often hypomorph, missense variants in TTC21B are commonly associated with early-onset hypertension and histological features of both FSGS and NPHP. Increased clinical recognition of this mixed glomerular and tubulointerstitial disease with often mild or absent features of a typical ciliopathy as well as inclusion of TTC21B on gene panels for early-onset arterial hypertension might shorten the diagnostic odyssey for patients affected by this rare tubuloglomerular kidney disease.; Changed publications to: 24876116, 26940125, 34957165, 34805047, PMID: 35289079 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Extreme early-onset hypertension v1.14 | TTC21B |
John Sayer gene: TTC21B was added gene: TTC21B was added to Extreme early-onset hypertension. Sources: Expert Review Mode of inheritance for gene: TTC21B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTC21B were set to 24876116; 26940125; 34957165; 34805047 Phenotypes for gene: TTC21B were set to Hypertension; focal segmental glomerulosclerosis; nephronopthisis; myopia Penetrance for gene: TTC21B were set to Complete Review for gene: TTC21B was set to GREEN gene: TTC21B was marked as current diagnostic Added comment: There is growing evidence that severe hypertension is a common phenotype in patients with this gene mutation (TTC21B biallelic). Sources: Expert Review |
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