Activity
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10 actions
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| Monogenic short stature v1.27 | SLF2 | Ida Ertmanska reviewed gene: SLF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v1.26 | SLF2 | Ida Ertmanska Tag Q3_24_promote_green was removed from gene: SLF2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v1.26 | SLF2 | Ida Ertmanska reviewed gene: SLF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v1.25 | SLF2 |
Ida Ertmanska Source Expert Review Green was added to SLF2. Source NHS GMS was added to SLF2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Monogenic short stature v1.1 | SLF2 |
Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: SLF2. Tag Q3_24_promote_green tag was added to gene: SLF2. |
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| Monogenic short stature v0.182 | SLF2 |
Achchuthan Shanmugasundram changed review comment from: PMID:36333305 reported the identification of biallelic loss-of-function SLF2 variants in seven individuals from six different families with a chromosome breakage disorder. All these individuals had developmental delay, markedly Severe microcephaly and reduction in height. Functional data including zebrafish model is also available to support disease association. This gene has been associated with relevant phenotype in both OMIM (MIM #620184) and Gene2Phenotype (with 'moderate' rating on the DD panel). Sources: Literature; to: PMID:36333305 reported the identification of biallelic loss-of-function SLF2 variants in seven individuals from six different families with a chromosome breakage disorder. All these individuals had developmental delay, markedly severe microcephaly and reduction in height. Functional data including zebrafish model is also available to support disease association. This gene has been associated with relevant phenotype in both OMIM (MIM #620184) and Gene2Phenotype (with 'moderate' rating on the DD panel). Sources: Literature |
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| Monogenic short stature v0.180 | SLF2 | Achchuthan Shanmugasundram Classified gene: SLF2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v0.180 | SLF2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (six unrelated cases) for the association of this gene with green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v0.180 | SLF2 | Achchuthan Shanmugasundram Gene: slf2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v0.179 | SLF2 |
Achchuthan Shanmugasundram gene: SLF2 was added gene: SLF2 was added to Monogenic short stature. Sources: Literature Q2_24_promote_green tags were added to gene: SLF2. Mode of inheritance for gene: SLF2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLF2 were set to 36333305 Phenotypes for gene: SLF2 were set to Atelis syndrome 1, OMIM:620184 Review for gene: SLF2 was set to GREEN Added comment: PMID:36333305 reported the identification of biallelic loss-of-function SLF2 variants in seven individuals from six different families with a chromosome breakage disorder. All these individuals had developmental delay, markedly Severe microcephaly and reduction in height. Functional data including zebrafish model is also available to support disease association. This gene has been associated with relevant phenotype in both OMIM (MIM #620184) and Gene2Phenotype (with 'moderate' rating on the DD panel). Sources: Literature |
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