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| Fetal anomalies v0.4714 | CWF19L1 |
Krithika Murali gene: CWF19L1 was added gene: CWF19L1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: CWF19L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CWF19L1 were set to 27016154 Phenotypes for gene: CWF19L1 were set to Spinocerebellar ataxia, autosomal recessive 17 - MIM#616127 Review for gene: CWF19L1 was set to GREEN Added comment: Fetal phenotype also described by 27016154 - MTOP at 22 weeks of gestation of an affected fetus due to small cerebellum and agenesis of corpus callosum. Postmortem examination showed unilateral hexadactyly and vertebral malformations. Sources: Literature |
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| Fetal anomalies v0.4329 | HEXA | Zornitza Stark Marked gene: HEXA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4329 | HEXA | Zornitza Stark Gene: hexa has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4329 | HEXA | Zornitza Stark Classified gene: HEXA as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4329 | HEXA | Zornitza Stark Gene: hexa has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4273 | HEXA |
Krithika Murali gene: HEXA was added gene: HEXA was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HEXA were set to Tay-Sachs disease - MIM#272800 Review for gene: HEXA was set to RED Added comment: Associated features not reported prenatally or at birth. Sources: Literature |
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| Fetal anomalies v0.2075 | Zornitza Stark removed gene:HEXA from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | HEXA |
Zornitza Stark gene: HEXA was added gene: HEXA was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HEXA were set to 23035047 Phenotypes for gene: HEXA were set to GM2-GANGLIOSIDOSIS TYPE 1 |
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