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| DDG2P v3.59 | SPTBN2 |
Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease Infantile ataxia with oculomotor and pyramidal signs is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 29795474;25981959;22914369). The DDG2P confidence category for the disease SCA14 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product.; to: The DDG2P confidence category for the disease Infantile ataxia with oculomotor and pyramidal signs is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 29795474;25981959;22914369). The DDG2P confidence category for the disease SCA14 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product. |
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| DDG2P v3.12 | SPTBN2 | Achchuthan Shanmugasundram reviewed gene: SPTBN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29795474, 22914369, 25981959; Phenotypes: SCA14, Infantile ataxia with oculomotor and pyramidal signs; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MICU1 | Achchuthan Shanmugasundram reviewed gene: MICU1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24336167; Phenotypes: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS, OMIM:615673; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GNS | Achchuthan Shanmugasundram reviewed gene: GNS: Rating: GREEN; Mode of pathogenicity: ; Publications: 19650410, 12624138, 17998446, 6450420, 3100754; Phenotypes: MUCOPOLYSACCHARIDOSIS TYPE 3D, OMIM:252940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | GNS | Achchuthan Shanmugasundram Publications for gene: GNS were updated from 6450420; 17998446; 19650410; 3100754; 12624138 to 19650410; 12624138; 17998446; 6450420; 3100754 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.40 | SPTBN2 | Rebecca Foulger Added comment: Comment on mode of inheritance: Multiple MOIs for different disorders in DD-Gene2Phenotype: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.39 | SPTBN2 | Rebecca Foulger commented on gene: SPTBN2: Added 'watchlist' tag to highlight multiple Disease confidence ratings in DD-G2P. Rated confirmed for 'SCA14'. Rated probable for 'Infantile ataxia with oculomotor and pyramidal signs'. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.37 | SPTBN2 |
Rebecca Foulger gene: SPTBN2 was added gene: SPTBN2 was added to DDG2P. 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 25981959; 22914369; 29795474 Phenotypes for gene: SPTBN2 were set to SCA14; Infantile ataxia with oculomotor and pyramidal signs |
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| DDG2P v0.2 | GNS | Rebecca Foulger reviewed gene: GNS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | MICU1 |
Rebecca Foulger gene: MICU1 was added gene: MICU1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MICU1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MICU1 were set to 24336167 Phenotypes for gene: MICU1 were set to MYOPATHY WITH EXTRAPYRAMIDAL SIGNS 615673 |
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| DDG2P v0.1 | GNS |
Rebecca Foulger gene: GNS was added gene: GNS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNS were set to 6450420; 17998446; 19650410; 3100754; 12624138 Phenotypes for gene: GNS were set to MUCOPOLYSACCHARIDOSIS TYPE 3D 252940 |
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