| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.4561 | TNC | Zornitza Stark Publications for gene: TNC were set to 23936043; 34093110; 33763067 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4560 | TNC | Zornitza Stark Classified gene: TNC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4560 | TNC | Zornitza Stark Gene: tnc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4559 | TNC |
Zornitza Stark edited their review of gene: TNC: Added comment: Five additional unrelated families (12 patients) with heterozygous loss‑of‑function TNC variants (frameshift c.5738_5745dup, nonsense c.1615C>T, nonsense c.1641C>A, missense c.2852C>T, splice‑site c.5247A>T) reported in association with deafness. Phenotypes range from childhood‑onset fluctuating loss to adult low‑frequency progressive loss. Two of the variants are present at relatively high pop frequencies in gnomAD.; Changed rating: GREEN; Changed publications: 40203778, 39720982, 39020321, 38640279, 35062939; Changed phenotypes: autosomal dominant nonsyndromic hearing loss 56, MONDO:0014283 |
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| Mendeliome v1.541 | TNNC2 |
Zornitza Stark gene: TNNC2 was added gene: TNNC2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: TNNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TNNC2 were set to 33755597 Phenotypes for gene: TNNC2 were set to Congenital myopathy, MONDO:0019952, TNNC2-related Review for gene: TNNC2 was set to GREEN Added comment: Two families reported: Family 1: 4 individuals, three generations; missense variant p.(Asp34Tyr) Family 2: de novo variant, missense p.(Met79Ile) Physiological studies in myofibers isolated from patients’ biopsies revealed a markedly reduced force response of the sarcomeres to [Ca2+]. This pathomechanism was further confirmed in experiments in which contractile dysfunction was evoked by replacing TnC in myofibers from healthy control subjects with recombinant, mutant TnC. Conversely, the contractile dysfunction of myofibers from patients was repaired by replacing endogenous, mutant TnC with recombinant, wild-type TnC. Borderline Green: sufficient segregation in Fam 1 plus de novo status in Fam 2, plus functional data. Sources: Literature |
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| Mendeliome v0.8152 | TNC | Zornitza Stark Marked gene: TNC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8152 | TNC | Zornitza Stark Gene: tnc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8152 | TNC | Zornitza Stark Phenotypes for gene: TNC were changed from to Deafness, autosomal dominant 56, MIM# 615629 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8151 | TNC | Zornitza Stark Publications for gene: TNC were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8150 | TNC | Zornitza Stark Mode of inheritance for gene: TNC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8149 | TNC | Zornitza Stark Classified gene: TNC as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8149 | TNC | Zornitza Stark Gene: tnc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8148 | TNC | Zornitza Stark reviewed gene: TNC: Rating: AMBER; Mode of pathogenicity: None; Publications: 23936043, 34093110, 33763067; Phenotypes: Deafness, autosomal dominant 56, MIM# 615629; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | TNC |
Zornitza Stark gene: TNC was added gene: TNC was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TNC was set to Unknown |
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