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| Hydrops fetalis v0.302 | BICD2 | Ain Roesley Classified gene: BICD2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.302 | BICD2 | Ain Roesley Gene: bicd2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.301 | BICD2 |
Ee Ming Wong changed review comment from: - Fetus with severe hydrops fetalis (hydrops, hypoplastic lungs, fixed flexion deformities). Neuropathology suggests congenital myopathy or dystrophic process - Confirmed to be de novo for a missense variant in BICD2 - Authors referenced a previous publication as additional evidence for BICD2 association with hydrops (PMID: 28635954). However, based on phenotypic information provided by Storbeck et al (2017) the reported individual did not have hydrops. Sources: Literature; to: - Fetus with severe hydrops fetalis (hydrops, hypoplastic lungs, fixed flexion deformities). Neuropathology suggests congenital myopathy or dystrophic process - Confirmed to be de novo for a missense variant in BICD2 - Authors referenced a previous publication as additional evidence for BICD2 association with hydrops (PMID: 28635954). However, based on phenotypic information provided by Storbeck et al (2017) the reported individual was not determined to have hydrops. Sources: Literature |
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| Hydrops fetalis v0.301 | BICD2 | Ain Roesley Classified gene: BICD2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.301 | BICD2 | Ain Roesley Gene: bicd2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.300 | BICD2 | Ain Roesley Marked gene: BICD2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.300 | BICD2 | Ain Roesley Gene: bicd2 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.300 | BICD2 |
Ee Ming Wong gene: BICD2 was added gene: BICD2 was added to Hydrops fetalis. Sources: Literature Mode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BICD2 were set to 37173812 Phenotypes for gene: BICD2 were set to Spinal muscular atrophy, lower extremity-predominant 2B, prenatal-onset (MIM#609797) Review for gene: BICD2 was set to AMBER gene: BICD2 was marked as current diagnostic Added comment: - Fetus with severe hydrops fetalis (hydrops, hypoplastic lungs, fixed flexion deformities). Neuropathology suggests congenital myopathy or dystrophic process - Confirmed to be de novo for a missense variant in BICD2 - Authors referenced a previous publication as additional evidence for BICD2 association with hydrops (PMID: 28635954). However, based on phenotypic information provided by Storbeck et al (2017) the reported individual did not have hydrops. Sources: Literature |
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