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Congenital myopathy v3.106 | TNNC2 | Arina Puzriakova Phenotypes for gene: TNNC2 were changed from congenital myopathy, MONDO:0019952 to Myopathy, congenital, with neonatal respiratory insufficiency, OMIM:620161 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myopathy v3.14 | TNNC2 | Eleanor Williams Tag Q3_21_rating was removed from gene: TNNC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myopathy v3.14 | TNNC2 | Eleanor Williams reviewed gene: TNNC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myopathy v3.13 | TNNC2 |
Eleanor Williams Source Expert Review Green was added to TNNC2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Congenital myopathy v3.10 | TNNC2 | Sarah Leigh reviewed gene: TNNC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myopathy v2.93 | TNNC2 | Anna Sarkozy reviewed gene: TNNC2: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: congenital myopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myopathy v2.51 | TNNC2 | Ivone Leong Tag Q3_21_rating tag was added to gene: TNNC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myopathy v2.51 | TNNC2 | Ivone Leong Classified gene: TNNC2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myopathy v2.51 | TNNC2 | Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. This gene is currently not associated with a phenotype in OMIM or Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myopathy v2.51 | TNNC2 | Ivone Leong Gene: tnnc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myopathy v2.50 | TNNC2 | Ivone Leong Phenotypes for gene: TNNC2 were changed from congenital myopathy to congenital myopathy, MONDO:0019952 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myopathy v2.49 | TNNC2 | Ivone Leong Added comment: Comment on publications: PMID:26924529 was incorrectly entered for TNNC2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myopathy v2.49 | TNNC2 | Ivone Leong Publications for gene: TNNC2 were set to 26924529 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myopathy v2.28 | TNNC2 | Dmitrijs Rots reviewed gene: TNNC2: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 33755597; Phenotypes: Myopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myopathy v1.182 | TNNC2 | Louise Daugherty changed review comment from: Note : The review uploaded on behalf of Rachael Mein (Viapath at Guy's Hospital) publication PMID: 26924529 is incorrect. The original file from London South GLH correctly associates PMID: 23746549 to the gene TRIP4, but for TNNC2 the publication field was blank (no data was supplied as evidence). The Green review rating for TNNC2 is the rating given by London South GLH. There is currently not enough evidence to support a Green rating. Rating to be discussed by the Neurology Test Group to confirm rating.; to: Note : The review uploaded on behalf of Rachael Mein (Viapath at Guy's Hospital) publication PMID: 26924529 is incorrect. The original file from London South GLH correctly associates PMID: 23746549 to the gene TRIP4, but for TNNC2 the publication field was blank (no data was supplied as evidence). The Green review rating for TNNC2 is the rating given by London South GLH. There is currently not enough evidence to support a Amber rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myopathy v1.182 | TNNC2 | Louise Daugherty commented on gene: TNNC2: Note : The review uploaded on behalf of Rachael Mein (Viapath at Guy's Hospital) publication PMID: 26924529 is incorrect. The original file from London South GLH correctly associates PMID: 23746549 to the gene TRIP4, but for TNNC2 the publication field was blank (no data was supplied as evidence). The Green review rating for TNNC2 is the rating given by London South GLH. There is currently not enough evidence to support a Green rating. Rating to be discussed by the Neurology Test Group to confirm rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myopathy v1.130 | TNNC2 | Louise Daugherty Phenotypes for gene: TNNC2 were changed from severe congenital myopathy with congenital bone fractures, 616866 to congenital myopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myopathy v1.120 | TNNC2 | Rachael Mein edited their review of gene: TNNC2: Changed rating: AMBER; Changed phenotypes: congenital myopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myopathy v1.100 | TNNC2 | Louise Daugherty Publications for gene: TNNC2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myopathy v1.99 | TNNC2 | Louise Daugherty Phenotypes for gene: TNNC2 were changed from to severe congenital myopathy with congenital bone fractures, 616866 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myopathy v1.98 | TNNC2 | Louise Daugherty Mode of inheritance for gene: TNNC2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myopathy v1.76 | TNNC2 | Louise Daugherty reviewed gene: TNNC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myopathy v1.75 | TNNC2 | Rachael Mein reviewed gene: TNNC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26924529; Phenotypes: severe congenital myopathy with congenital bone fractures, 616866; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myopathy v1.74 | TNNC2 | Louise Daugherty Source NHS GMS was added to TNNC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myopathy v1.73 | TNNC2 |
Louise Daugherty gene: TNNC2 was added gene: TNNC2 was added to Congenital myopathy. Sources: London South GLH Mode of inheritance for gene: TNNC2 was set to |