Activity
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15 actions
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| Familial hypoparathyroidism v2.17 | TBX1 | Eleanor Williams Tag Q1_23_promote_green was removed from gene: TBX1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v2.17 | TBX1 | Eleanor Williams reviewed gene: TBX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v2.16 | TBX1 |
Eleanor Williams Source Expert Review Green was added to TBX1. Source NHS GMS was added to TBX1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Familial hypoparathyroidism v2.10 | TBX1 | Arina Puzriakova Classified gene: TBX1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v2.10 | TBX1 | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green on this panel (at least three cases of parathyroid dysfunction, including a patient with isolated hypoparathyroidism) at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v2.10 | TBX1 | Arina Puzriakova Gene: tbx1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v2.9 | TBX1 | Arina Puzriakova Phenotypes for gene: TBX1 were changed from to DiGeorge syndrome, OMIM:188400; Conotruncal anomaly face syndrome, OMIM:217095; Velocardiofacial syndrome, OMIM:192430 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v2.8 | TBX1 | Arina Puzriakova Publications for gene: TBX1 were set to 30137364 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v2.7 | TBX1 | Arina Puzriakova Tag Q1_23_promote_green tag was added to gene: TBX1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v2.7 | TBX1 | Arina Puzriakova reviewed gene: TBX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14585638, 17273972, 30137364; Phenotypes: DiGeorge syndrome, OMIM:188400, Conotruncal anomaly face syndrome, OMIM:217095, Velocardiofacial syndrome, OMIM:192430; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v1.10 | TBX1 | Ivone Leong Classified gene: TBX1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v1.10 | TBX1 | Ivone Leong Added comment: Comment on list classification: PMID: 30137364 reports on 2 unrelated families who have hypoparathyroidism and have splice variants in the TBX1 gene that leads to exon skipping. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v1.10 | TBX1 | Ivone Leong Gene: tbx1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v1.9 | TBX1 | Ivone Leong Publications for gene: TBX1 were set to PMID: 30137364 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v1.8 | TBX1 |
Treena Cranston gene: TBX1 was added gene: TBX1 was added to Familial hypoparathyroidism. Sources: Other Mode of inheritance for gene: TBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TBX1 were set to PMID: 30137364 Penetrance for gene: TBX1 were set to unknown Review for gene: TBX1 was set to RED Added comment: Red evidence to date but recent publication of this gene (PMID: 30137364) showing association with isolated hypoparathyroidism. Too early for diagnostic panels but of interest for research, so flagging for future consideration Sources: Other |
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