Activity
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| Fetal anomalies v4.192 | ALG14 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ALG14. Tag Q3_24_NHS_review was removed from gene: ALG14. |
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| Fetal anomalies v4.192 | ALG14 | Achchuthan Shanmugasundram edited their review of gene: ALG14: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.191 | ALG14 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ALG14. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.38 | ALG14 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ALG14. Tag Q3_24_NHS_review tag was added to gene: ALG14. |
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| Fetal anomalies v4.36 | ALG14 | Achchuthan Shanmugasundram commented on gene: ALG14 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | ALG14 | Lyn Chitty reviewed gene: ALG14: Rating: GREEN; Mode of pathogenicity: ; Publications: 34971077, 23404334, 28733338, 30221345; Phenotypes: ?Myasthenic syndrome, congenital, 15, without tubular aggregates, OMIM:616227, Myopathy, epilepsy, and progressive cerebral atrophy, OMIM:619036; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.34 | ALG14 |
Achchuthan Shanmugasundram gene: ALG14 was added gene: ALG14 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: ALG14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG14 were set to 34971077; 23404334; 28733338; 30221345 Phenotypes for gene: ALG14 were set to ?Myasthenic syndrome, congenital, 15, without tubular aggregates, OMIM:616227; Myopathy, epilepsy, and progressive cerebral atrophy, OMIM:619036 |
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