Activity
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7 actions
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| Paediatric disorders - additional genes v6.18 | IGFALS |
Sarah Leigh Tag Q2_25_ promote_green tag was added to gene: IGFALS. Tag Q2_25_ NHS_review tag was added to gene: IGFALS. |
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| Paediatric disorders - additional genes v6.18 | IGFALS | Sarah Leigh reviewed gene: IGFALS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v6.18 | IGFALS | Sarah Leigh Publications for gene: IGFALS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v6.17 | IGFALS | Sarah Leigh Phenotypes for gene: IGFALS were changed from short stature to Acid-labile subunit, deficiency of, OMIM:615961; short stature due to primary acid-labile subunit deficiency, MONDO:0014420 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v6.16 | IGFALS | Sarah Leigh Classified gene: IGFALS as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v6.16 | IGFALS | Sarah Leigh Gene: igfals has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v6.3 | IGFALS |
Tracy Lester gene: IGFALS was added gene: IGFALS was added to Paediatric disorders - additional genes. Sources: NHS GMS Mode of inheritance for gene: IGFALS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IGFALS were set to short stature Penetrance for gene: IGFALS were set to unknown Review for gene: IGFALS was set to GREEN gene: IGFALS was marked as current diagnostic Added comment: This gene is on the R453 panel but absent from R27 - adding so that syndromic cases of short stature have all genes on the R453 panel covered. Sources: NHS GMS |
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