| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal anomalies v0.4357 | SMN1 | Zornitza Stark Marked gene: SMN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4357 | SMN1 | Zornitza Stark Gene: smn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4357 | SMN1 | Zornitza Stark Phenotypes for gene: SMN1 were changed from Spinal muscular atrophy 253400; Spinal muscular atrophy 271150; Spinal muscular atrophy 253550; Spinal muscular atrophy 253300 to Spinal muscular atrophy 253400; Spinal muscular atrophy 271150; Spinal muscular atrophy 253550; Spinal muscular atrophy 253300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4356 | SMN1 | Zornitza Stark Tag SV/CNV tag was added to gene: SMN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3382 | MN1 | Zornitza Stark Marked gene: MN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3382 | MN1 | Zornitza Stark Gene: mn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3382 | MN1 | Zornitza Stark Mode of inheritance for gene: MN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3381 | MN1 | Zornitza Stark Classified gene: MN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3381 | MN1 | Zornitza Stark Gene: mn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3380 | MN1 |
Zornitza Stark changed review comment from: Over 20 individuals described with de novo truncating variants in this gene; these cluster in the C-terminal and the authors postulate that that syndrome is not due to MN1 haploinsufficiency but rather is the result of dominantly acting C-terminally truncated MN1 protein. Sources: Literature; to: Over 20 individuals described with de novo truncating variants in this gene; these cluster in the C-terminal and the authors postulate that that syndrome is not due to MN1 haploinsufficiency but rather is the result of dominantly acting C-terminally truncated MN1 protein. Diaphragmatic hernia, craniosynostosis and brain abnormalities reported. Sources: Literature |
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| Fetal anomalies v0.2738 | FMN1 | Zornitza Stark Marked gene: FMN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2738 | FMN1 | Zornitza Stark Gene: fmn1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2738 | FMN1 | Zornitza Stark Classified gene: FMN1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2738 | FMN1 | Zornitza Stark Gene: fmn1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2712 | FMN1 |
Krithika Murali gene: FMN1 was added gene: FMN1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: FMN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FMN1 were set to 20610440; 19383632; 15202026 Phenotypes for gene: FMN1 were set to oligosyndactyly; radioulnar synostosis; hearing loss; renal defects Review for gene: FMN1 was set to AMBER Added comment: No OMIM gene-disease association. No additional evidence since last review of this gene in Sep 2021. PMID 20610440 - a 263 Kb homozygous deletion of FMN1 reported in an individual with oligosyndactyly, radioulnar synostosis, hearing loss and renal defects. Supporting null mouse model with oligosyndactyly. A large duplication including FMN1 and GREM1 reported in another individual with Cenani–Lenz syndrome. Sources: Literature |
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| Fetal anomalies v0.0 | MN1 |
Zornitza Stark gene: MN1 was added gene: MN1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: MN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MN1 were set to 31834374; 31839203; 15870292 Phenotypes for gene: MN1 were set to CEBALID syndrome, OMIM:618774; CEBALID syndrome, MONDO:0032908 Mode of pathogenicity for gene: MN1 was set to Other |
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| Fetal anomalies v0.0 | SMN1 |
Zornitza Stark gene: SMN1 was added gene: SMN1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMN1 were set to 32644125; 11826188; 32644120 Phenotypes for gene: SMN1 were set to Spinal muscular atrophy 253400; Spinal muscular atrophy 271150; Spinal muscular atrophy 253550; Spinal muscular atrophy 253300 |
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