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| Laterality disorders and isomerism v2.3 | NODAL |
Sarah Leigh Tag Q3_22_rating was removed from gene: NODAL. Tag Q3_22_expert_review was removed from gene: NODAL. |
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| Laterality disorders and isomerism v2.3 | NODAL | Sarah Leigh reviewed gene: NODAL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v2.2 | NODAL |
Sarah Leigh Source Expert Review Red was added to NODAL. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Laterality disorders and isomerism v1.51 | NODAL | Arina Puzriakova commented on gene: NODAL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v1.51 | NODAL | Eleanor Williams commented on gene: NODAL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v1.51 | NODAL |
Eleanor Williams Tag Q2_21_expert_review was removed from gene: NODAL. Tag Q3_22_rating tag was added to gene: NODAL. Tag Q3_22_expert_review tag was added to gene: NODAL. |
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| Laterality disorders and isomerism v1.44 | NODAL | Ivone Leong commented on gene: NODAL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v1.44 | NODAL | Ivone Leong Tag Q2_21_expert_review tag was added to gene: NODAL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v1.43 | NODAL | Ivone Leong Publications for gene: NODAL were set to 19064609 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v1.5 | NODAL | Zornitza Stark reviewed gene: NODAL: Rating: RED; Mode of pathogenicity: None; Publications: 9354794, 19064609; Phenotypes: Heterotaxy, visceral, 5 (MIM#270100); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.112 | NODAL | Louise Daugherty Phenotypes for gene: NODAL were changed from Heterotaxy, visceral, 5270100 to Heterotaxy, visceral, 5, 270100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.111 | NODAL | Louise Daugherty Phenotypes for gene: NODAL were changed from to Heterotaxy, visceral, 5270100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.110 | NODAL | Louise Daugherty Mode of inheritance for gene: NODAL was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.51 | NODAL | Matthew Edwards reviewed gene: NODAL: Rating: GREEN; Mode of pathogenicity: None; Publications: 19064609; Phenotypes: OMIM Heterotaxy, visceral, 5270100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.6 | NODAL | Louise Daugherty Publications for gene: NODAL were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.5 | NODAL |
Louise Daugherty edited their review of gene: NODAL: 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). In 14/269 cases with heterotaxy and or cardiovascular malformations, mutations identified in listed PMID. Mutations included missense, splice site and an in-frame indel. Mode of inheritance MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown. Phenotypes: Heterotaxy syndrome; Heterotaxy, visceral, 5, 270100; Visceral Heterotaxy; Heterotaxy, Visceral, 5, Autosomal. Publications: 19064609; Changed publications: 19064609 |
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| Laterality disorders and isomerism v0.3 | NODAL |
Louise Daugherty Source Expert Review Green was added to NODAL. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Laterality disorders and isomerism v0.2 | NODAL | Louise Daugherty reviewed gene: NODAL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.1 | NODAL |
Louise Daugherty gene: NODAL was added gene: NODAL was added to Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: NODAL was set to |
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