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| Fetal anomalies v0.2795 | MAPRE2 | Zornitza Stark Marked gene: MAPRE2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2795 | MAPRE2 | Zornitza Stark Gene: mapre2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2795 | MAPRE2 | Zornitza Stark Phenotypes for gene: MAPRE2 were changed from Symmetric circumferential skin creases, congenital, 2, 616734 to Symmetric circumferential skin creases, congenital, 2, MIM#616734 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2794 | MAPRE2 | Zornitza Stark Mode of inheritance for gene: MAPRE2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2793 | MAPRE2 |
Zornitza Stark changed review comment from: ID is part of the phenotype, more severe in those with bi-allelic variants. Sources: Expert list; to: Cleft palate and microcephaly reported. Sources: Expert list |
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| Fetal anomalies v0.0 | MAPRE2 |
Zornitza Stark gene: MAPRE2 was added gene: MAPRE2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: MAPRE2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MAPRE2 were set to 31903734; 31502381; 26637975 Phenotypes for gene: MAPRE2 were set to Symmetric circumferential skin creases, congenital, 2, 616734 |
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