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Laterality disorders and isomerism v2.3 | CFC1 |
Sarah Leigh Tag Q2_21_rating was removed from gene: CFC1. Tag Q2_21_expert_review was removed from gene: CFC1. |
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Laterality disorders and isomerism v2.3 | CFC1 | Sarah Leigh reviewed gene: CFC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Laterality disorders and isomerism v1.32 | CFC1 | Ivone Leong Tag Q2_21_expert_review tag was added to gene: CFC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Laterality disorders and isomerism v1.32 | CFC1 | Ivone Leong reviewed gene: CFC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Laterality disorders and isomerism v1.32 | CFC1 | Ivone Leong Tag Q2_21_rating tag was added to gene: CFC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Laterality disorders and isomerism v1.32 | CFC1 | Ivone Leong Phenotypes for gene: CFC1 were changed from Heterotaxy, visceral, 2, 605376 to Heterotaxy, visceral, 2, autosomal, OMIM:605376 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Laterality disorders and isomerism v1.31 | CFC1 | Ivone Leong Publications for gene: CFC1 were set to 11062482; 25423076 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Laterality disorders and isomerism v1.5 | CFC1 | Zornitza Stark reviewed gene: CFC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31633655, 18162845, 25423076, 11062482; Phenotypes: Heterotaxy, visceral, 2, autosomal 605376; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Laterality disorders and isomerism v0.132 | CFC1 | Louise Daugherty Classified gene: CFC1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Laterality disorders and isomerism v0.132 | CFC1 | Louise Daugherty Added comment: Comment on list classification: Downgraded from Green to Amber after expert review. Change of rating will be included in update with Test Group to enable further comment/review if required before sign off. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Laterality disorders and isomerism v0.132 | CFC1 | Louise Daugherty Gene: cfc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Laterality disorders and isomerism v0.68 | CFC1 | Louise Daugherty Mode of inheritance for gene: CFC1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Laterality disorders and isomerism v0.67 | CFC1 | Louise Daugherty Phenotypes for gene: CFC1 were changed from to Heterotaxy, visceral, 2, 605376 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Laterality disorders and isomerism v0.66 | CFC1 | Louise Daugherty Publications for gene: CFC1 were set to 11062482 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Laterality disorders and isomerism v0.51 | CFC1 | Matthew Edwards reviewed gene: CFC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 11062482, 25423076; Phenotypes: OMIM 605376 Heterotaxy, visceral, 2, autosomal; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Laterality disorders and isomerism v0.9 | CFC1 | Louise Daugherty Publications for gene: CFC1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Laterality disorders and isomerism v0.8 | CFC1 | Louise Daugherty edited their review of gene: CFC1: Added comment: From Panel Familial non syndromic congenital heart disease. 4 Jul 2017, 7:24 a.m. Panel version: 1.8. Review by Helen Brittain (Genomics England Curator). Green List (high evidence). Comment on list classification: Sufficient evidence in relation to heterotaxy phenotype. Therefore promoted to green. Three (/?four) unrelated laterality cases with two LOF mutations in listed PMID. Considered sufficient cases for inclusion. Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown. Phenotypes: Heterotaxy, visceral, 2, autosomal, 605376; Visceral Heterotaxy, Heterotaxy, Visceral, 2, Autosomal. Publications: 11062482.; Changed publications: 11062482 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Laterality disorders and isomerism v0.3 | CFC1 |
Louise Daugherty Source Expert Review Green was added to CFC1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Laterality disorders and isomerism v0.2 | CFC1 | Louise Daugherty reviewed gene: CFC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Laterality disorders and isomerism v0.1 | CFC1 |
Louise Daugherty gene: CFC1 was added gene: CFC1 was added to Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: CFC1 was set to |