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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.
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)
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