Activity
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| Fetal anomalies v4.73 | MED25 | Achchuthan Shanmugasundram Phenotypes for gene: MED25 were changed from Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643; hypospadias, thin corpus callosum, cerebral ventricular dilatation; multiple congenital anomalies; congenital heart defects; Basel-Vanagait-Smirin-Yosef syndrome, OMIM:616449 to Basel-Vanagait-Smirin-Yosef syndrome, OMIM:616449 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | MED25 | Anna de Burca reviewed gene: MED25: Rating: GREEN; Mode of pathogenicity: ; Publications: 32324310, 25792360, 32816121; Phenotypes: Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643, hypospadias, thin corpus callosum, cerebral ventricular dilatation, multiple congenital anomalies, congenital heart defects, Basel-Vanagait-Smirin-Yosef syndrome, OMIM:616449; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.34 | MED25 |
Achchuthan Shanmugasundram gene: MED25 was added gene: MED25 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: MED25 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MED25 were set to 32324310; 25792360; 32816121 Phenotypes for gene: MED25 were set to Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643; hypospadias, thin corpus callosum, cerebral ventricular dilatation; multiple congenital anomalies; congenital heart defects; Basel-Vanagait-Smirin-Yosef syndrome, OMIM:616449 |
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| Fetal anomalies v0.134 | NAGA | Rebecca Foulger edited their review of gene: NAGA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NAGA | Rebecca Foulger reviewed gene: NAGA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | NAGA | Rebecca Foulger Added phenotypes SCHINDLER DISEASE for gene: NAGA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | NAGA |
Rebecca Foulger gene: NAGA was added gene: NAGA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NAGA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NAGA were set to KANZAKI DISEASE |
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