Activity
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| Fetal anomalies v4.192 | HS2ST1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: HS2ST1. Tag Q3_24_NHS_review was removed from gene: HS2ST1. |
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| Fetal anomalies v4.192 | HS2ST1 | Achchuthan Shanmugasundram edited their review of gene: HS2ST1: 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 | HS2ST1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to HS2ST1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.65 | HS2ST1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: HS2ST1. Tag Q3_24_NHS_review tag was added to gene: HS2ST1. |
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| Fetal anomalies v4.36 | HS2ST1 | Achchuthan Shanmugasundram commented on gene: HS2ST1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | HS2ST1 | Denise Williams reviewed gene: HS2ST1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33159882; Phenotypes: arthrogryposis, Neurofacioskeletal syndrome with or without renal agenesis, OMIM:619194, multiple congenital anomalies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.34 | HS2ST1 |
Achchuthan Shanmugasundram gene: HS2ST1 was added gene: HS2ST1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: HS2ST1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HS2ST1 were set to 33159882 Phenotypes for gene: HS2ST1 were set to arthrogryposis; Neurofacioskeletal syndrome with or without renal agenesis, OMIM:619194; multiple congenital anomalies |
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