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| Laterality disorders and isomerism v0.131 | ACVR2B | Louise Daugherty changed review comment from: Comment on list classification: Downgraded from Green to Red after expert review. Included update to Test Group to comment on this change before sign off.; to: Comment on list classification: Downgraded from Green to Red 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 v0.131 | ACVR2B | Louise Daugherty Classified gene: ACVR2B as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.131 | ACVR2B | Louise Daugherty Added comment: Comment on list classification: Downgraded from Green to Red after expert review. Included update to Test Group to comment on this change before sign off. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.131 | ACVR2B | Louise Daugherty Gene: acvr2b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.51 | ACVR2B | Matthew Edwards reviewed gene: ACVR2B: Rating: RED; Mode of pathogenicity: None; Publications: 9916847; Phenotypes: OMIM 613751 Heterotaxy, visceral, 4, autosomal; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.39 | ACVR2B | Louise Daugherty Phenotypes for gene: ACVR2B were changed from Heterotaxy syndrome Heterotaxy, visceral, 4, autosomal, 613751 Visceral Heterotaxy, Heterotaxy, Visceral, 4, Autosomal to Heterotaxy syndrome Heterotaxy, visceral, 4, autosomal, 613751 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.25 | ACVR2B | Louise Daugherty Phenotypes for gene: ACVR2B were changed from to Heterotaxy syndrome Heterotaxy, visceral, 4, autosomal, 613751 Visceral Heterotaxy, Heterotaxy, Visceral, 4, Autosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.24 | ACVR2B | Louise Daugherty Publications for gene: ACVR2B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.23 | ACVR2B | Louise Daugherty Mode of inheritance for gene: ACVR2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.4 | ACVR2B | Louise Daugherty edited their review of gene: ACVR2B: Changed publications: 9916847 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.4 | ACVR2B |
Louise Daugherty commented on gene: ACVR2B: From review 4 Jul 2017, 7:24 a.m. Panel Name Familial non syndromic congenital heart disease. Panel version: 1.8 Helen Brittain (Genomics England Curator) Green List (high evidence) Three unrelated cases of left-right axis malformations, including cardiac anomalies e.g. left atrialisomerism in PMID:9916847. 4 Jul 2017, 7:24 a.m. Mode of inheritance MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes Heterotaxy syndrome; Heterotaxy, visceral, 4, autosomal, 613751; Visceral Heterotaxy; Heterotaxy, Visceral, 4, Autosomal Publications: 9916847 |
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| Laterality disorders and isomerism v0.3 | ACVR2B |
Louise Daugherty Source Expert Review Green was added to ACVR2B. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Laterality disorders and isomerism v0.2 | ACVR2B | Louise Daugherty reviewed gene: ACVR2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.1 | ACVR2B |
Louise Daugherty gene: ACVR2B was added gene: ACVR2B was added to Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: ACVR2B was set to |
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