Activity
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21 actions
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| Laterality disorders and isomerism v4.13 | ACVR2B | Ida Ertmanska Phenotypes for gene: ACVR2B were changed from Heterotaxy syndrome Heterotaxy, visceral, 4, autosomal, 613751 to Heterotaxy, visceral, 4, autosomal, OMIM:613751; heterotaxy, visceral, 4, autosomal, MONDO:0013403 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v4.12 | ACVR2B | Ida Ertmanska Publications for gene: ACVR2B were set to 9916847 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v4.11 | ACVR2B | Ida Ertmanska Classified gene: ACVR2B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v4.11 | ACVR2B | Ida Ertmanska Added comment: Comment on list classification: There are 3 unrelated individuals reported with heterotaxy and heterozygous missense variants in ACVR2B. Animal models are supportive of gene-disease association, though in homozygous knockouts only (heterozygous knockout mice are reportedly normal). Additional cases have been reported harbouring the p.Arg40His variant, which is too common to cause dominant disease (not counted). Based on available evidence, this gene should be promoted to Green at the next update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v4.11 | ACVR2B | Ida Ertmanska Gene: acvr2b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v4.10 | ACVR2B | Ida Ertmanska Tag Q2_26_promote_green tag was added to gene: ACVR2B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v4.10 | ACVR2B | Ida Ertmanska reviewed gene: ACVR2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 9916847, 21864452, 30622330, 35547246; Phenotypes: Heterotaxy, visceral, 4, autosomal, OMIM:613751, heterotaxy, visceral, 4, autosomal, MONDO:0013403; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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