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| Fetal anomalies v0.1816 | FREM1 | Zornitza Stark Mode of inheritance for gene: FREM1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1815 | FREM1 | Zornitza Stark Marked gene: FREM1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1815 | FREM1 | Zornitza Stark Gene: frem1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1815 | FREM1 | Zornitza Stark Phenotypes for gene: FREM1 were changed from MANITOBA OCULOTRICHOANAL SYNDROME to Manitoba oculotrichoanal syndrome 248450; Bifid nose with or without anorectal and renal anomalies, MIM# 608980; Trigonocephaly 2, MIM# 614485 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1814 | FREM1 | Zornitza Stark Publications for gene: FREM1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1813 | FREM1 |
Zornitza Stark changed review comment from: Single individual reported with compound het variants in this gene, supportive mouse model. Individual did not have features of BNAR/MOTA syndromes. Sources: Literature; to: Single individual reported with compound het variants in this gene and CDH, supportive mouse model. Individual did not have features of BNAR/MOTA syndromes. Sources: Literature |
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| Fetal anomalies v0.1813 | FREM1 |
Zornitza Stark edited their review of gene: FREM1: Added comment: Bi-allelic variants are associated with multiple congenital anomaly syndromes (MOTA and BNAR), which likely represent a spectrum. Three families reported with trigonocephaly and single missense variants.; Changed rating: GREEN; Changed publications: 32016392, 21931569, 21507892, 19732862, 20301721, 28111185; Changed phenotypes: Manitoba oculotrichoanal syndrome 248450, Bifid nose with or without anorectal and renal anomalies, MIM# 608980, Trigonocephaly 2, MIM# 614485 |
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| Fetal anomalies v0.0 | FREM1 |
Zornitza Stark gene: FREM1 was added gene: FREM1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: FREM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FREM1 were set to MANITOBA OCULOTRICHOANAL SYNDROME |
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