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| Fetal anomalies v0.2665 | ZNF462 |
Zornitza Stark changed review comment from: 1 family (4 affected members), Weiss et al. (2017) identified a heterozygous nonsense ZNF462 mutation. 3 additional unrelated patients with a similar phenotype with heterozygous ZNF462 mutations. 14 unrelated patients with WSKA, Kruszka et al. (2019) identified heterozygous loss-of-function ZNF462 mutations.; to: 1 family (4 affected members), Weiss et al. (2017) identified a heterozygous nonsense ZNF462 mutation. 3 additional unrelated patients with a similar phenotype with heterozygous ZNF462 mutations. 14 unrelated patients with WSKA, Kruszka et al. (2019) identified heterozygous loss-of-function ZNF462 mutations. Multiple congenital anomalies syndrome. |
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| Fetal anomalies v0.2499 | ZNF462 | Seb Lunke Marked gene: ZNF462 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2499 | ZNF462 | Seb Lunke Gene: znf462 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2499 | ZNF462 | Seb Lunke Phenotypes for gene: ZNF462 were changed from Craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay to Weiss-Kruszka syndrome; OMIM#618619 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2498 | ZNF462 | Seb Lunke Publications for gene: ZNF462 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2497 | ZNF462 | Seb Lunke Mode of inheritance for gene: ZNF462 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2000 | ZNF462 |
Chirag Patel changed review comment from: Dysgenesis of corpus callosum and structural heart defects reported as part of syndrome.; to: Dysgenesis of corpus callosum and structural heart defects reported as part of syndrome. Suitable for fetal anomalies panel. |
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| Fetal anomalies v0.2000 | ZNF462 | Chirag Patel Classified gene: ZNF462 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2000 | ZNF462 | Chirag Patel Gene: znf462 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1999 | ZNF462 | Chirag Patel commented on gene: ZNF462: Dysgenesis of corpus callosum and structural heart defects reported as part of syndrome. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ZNF462 |
Zornitza Stark gene: ZNF462 was added gene: ZNF462 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ZNF462 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ZNF462 were set to Craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay |
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