Activity
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10 actions
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| Paediatric or syndromic cardiomyopathy v6.7 | ALPK3 |
Achchuthan Shanmugasundram Tag Q3_24_NHS_review was removed from gene: ALPK3. Tag Q3_24_MOI was removed from gene: ALPK3. |
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| Paediatric or syndromic cardiomyopathy v6.7 | ALPK3 | Achchuthan Shanmugasundram reviewed gene: ALPK3: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v6.6 | ALPK3 | Achchuthan Shanmugasundram Mode of inheritance for gene ALPK3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v5.10 | ALPK3 |
Sarah Leigh Tag Q3_24_NHS_review tag was added to gene: ALPK3. Tag Q3_24_MOI tag was added to gene: ALPK3. |
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| Paediatric or syndromic cardiomyopathy v5.10 | ALPK3 | Sarah Leigh reviewed gene: ALPK3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v5.10 | ALPK3 | Sarah Leigh Publications for gene: ALPK3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.22 | ALPK3 | Ivone Leong Phenotypes for gene: ALPK3 were changed from to Cardiomyopathy, familial hypertrophic 27, 618052 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.21 | ALPK3 | Ivone Leong Mode of inheritance for gene: ALPK3 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.16 | ALPK3 | Ivone Leong reviewed gene: ALPK3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.15 | ALPK3 |
Ivone Leong gene: ALPK3 was added gene: ALPK3 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ALPK3 was set to |
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