Activity
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3 actions
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| Fetal anomalies v8.26 | CRNKL1 | Ida Ertmanska commented on gene: CRNKL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v8.25 | CRNKL1 | Beth Young reviewed gene: CRNKL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40857589; Phenotypes: Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, OMIM:621436, microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, MONDO:0980935; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v8.23 | CRNKL1 |
Ida Ertmanska gene: CRNKL1 was added gene: CRNKL1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: CRNKL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CRNKL1 were set to 40857589 Phenotypes for gene: CRNKL1 were set to Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, OMIM:621436; microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, MONDO:0980935 |
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