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| Fetal anomalies v0.226 | SPTBN2 |
Rebecca Foulger Source Expert Review Red was added to SPTBN2. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.225 | SPTBN2 | Rebecca Foulger edited their review of gene: SPTBN2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 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: Phenotype is not fetally-relevant. Action taken: Demoted SPTBN2 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.197 | SPTBN2 | Rebecca Foulger Added comment: Comment on phenotypes: Added more informative phenotype description from OMIM (Spinocerebellar ataxia, autosomal recessive 14, 615386) as Gene2Phenotype names the disorder as SCA14. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.197 | SPTBN2 | Rebecca Foulger Phenotypes for gene: SPTBN2 were changed from SCA14; Infantile ataxia with oculomotor and pyramidal signs; Spinocerebellar ataxia, autosomal recessive 14, 615386 to SCA14; Infantile ataxia with oculomotor and pyramidal signs; Spinocerebellar ataxia, autosomal recessive 14, 615386 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.196 | SPTBN2 | Rebecca Foulger Added comment: Comment on mode of inheritance: Two new disorders added to DD-G2P in March 2019, with different modes of inheritance: biallelic for SCA14, and monoallelic for Infantile ataxia with oculomotor and pyramidal signs. Set inheritance to 'biallelic' only because biallelic 'SCA14' disorder is confirmed, and monoallelic 'Infantile ataxia with oculomotor and pyramidal signs' disorder is probable. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.196 | SPTBN2 | Rebecca Foulger Mode of inheritance for gene: SPTBN2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.195 | SPTBN2 | Rebecca Foulger commented on gene: SPTBN2: Added 'watchlist' tag to highlight multiple Disease confidence ratings in DD-G2P. Rated confirmed for biallelic SCA14. Rated probable for Infantile ataxia with oculomotor and pyramidal signs. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.195 | SPTBN2 | Rebecca Foulger Tag watchlist tag was added to gene: SPTBN2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.193 | SPTBN2 | Rebecca Foulger reviewed gene: SPTBN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.192 | SPTBN2 |
Rebecca Foulger gene: SPTBN2 was added gene: SPTBN2 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: SPTBN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPTBN2 were set to 29196973; 28636205 Phenotypes for gene: SPTBN2 were set to SCA14; Infantile ataxia with oculomotor and pyramidal signs; Spinocerebellar ataxia, autosomal recessive 14, 615386 |
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