| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal anomalies v1.69 | NODAL | Zornitza Stark Publications for gene: NODAL were set to 9354794; 19064609 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.68 | NODAL | Zornitza Stark Classified gene: NODAL as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.68 | NODAL | Zornitza Stark Gene: nodal has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.67 | NODAL |
Zornitza Stark edited their review of gene: NODAL: Added comment: NODAL is a good biological candidate for heterotaxy disorders, and this is supported by animal models. The gene is depleted for LoF variants in gnomad. The missense variants reported in PMIDs 9354794 and 19064609 are present at a high population frequency in gnomad, including some in homozygous case: their association with disease is DISPUTED. A total of at least 7 families reported with severe CHD and high impact variants (stop gain, frameshift and canonical splice site). However, almost invariably these were inherited from unaffected or questionably affected parents (e.g. self reports of heart murmur in childhood), raising questions about whether these variants contribute to disease under a monogenic or polygenic model and/or about penetrance. Discussed at GenCC on 13/9/2022 and agreed on MODERATE assessment.; Changed rating: AMBER; Changed publications: 9354794, 19064609, 29368431, 19933292, 11311163, 30293987 |
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| Fetal anomalies v0.4204 | NODAL | Zornitza Stark Marked gene: NODAL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4204 | NODAL | Zornitza Stark Gene: nodal has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4204 | NODAL | Zornitza Stark Phenotypes for gene: NODAL were changed from HETEROTAXY SYNDROME to Heterotaxy, visceral, 5 (MIM#270100) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4203 | NODAL | Zornitza Stark Publications for gene: NODAL were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4202 | NODAL | Zornitza Stark Mode of inheritance for gene: NODAL was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4167 | NODAL | Chirag Patel Classified gene: NODAL as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4167 | NODAL | Chirag Patel Gene: nodal has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2422 | TTC25 |
Zornitza Stark changed review comment from: 2 families reported with PCD. Mouse model showed immotile nodal cilia. Gene ncodes a component of the outer dynein arm required to develop the main mechanical force to generate ciliary beats. (Gene is non coding in gnomad v2 and coding in v3); to: 2 families reported with PCD. Some individuals had situs inversus. Mouse model showed immotile nodal cilia. Gene ncodes a component of the outer dynein arm required to develop the main mechanical force to generate ciliary beats. (Gene is non coding in gnomad v2 and coding in v3) |
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| Fetal anomalies v0.0 | NODAL |
Zornitza Stark gene: NODAL was added gene: NODAL was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: NODAL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NODAL were set to HETEROTAXY SYNDROME |
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