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| Fetal anomalies v0.979 | BCAS3 | Zornitza Stark Marked gene: BCAS3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.979 | BCAS3 | Zornitza Stark Gene: bcas3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.979 | BCAS3 | Zornitza Stark Classified gene: BCAS3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.979 | BCAS3 | Zornitza Stark Gene: bcas3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.978 | BCAS3 |
Zornitza Stark gene: BCAS3 was added gene: BCAS3 was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: BCAS3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BCAS3 were set to 34022130 Phenotypes for gene: BCAS3 were set to Hengel-Maroofian-Schols syndrome, MIM# 619641 Review for gene: BCAS3 was set to GREEN Added comment: 15 individuals from eight unrelated families with germline bi-allelic loss-of-function variants in BCAS3. All probands share a global developmental delay accompanied by pyramidal tract involvement, microcephaly, short stature, strabismus, dysmorphic facial features, and seizures. Patient fibroblasts confirmed absence of BCAS3 protein. All patients had hyperreflexia, spasticity. Microcephaly and CC abnormalities may be detectable antenatally. Sources: Expert Review |
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