Activity
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| Monogenic short stature v0.175 | PAPPA2 |
Achchuthan Shanmugasundram changed review comment from: The following is the review left by Melissa Connolly (WMRGL GLH) for this gene in R147 Growth failure in early childhood panel (https://panelapp.genomicsengland.co.uk/panels/473/gene/PAPPA2/): The addition of this gene to the panel would be useful from a GLH perspective for interpretation purposes. ACGS guidelines state that when trying to incorporate phenotypic data into classification of variants that all other known causes of the phenotype should be excluded. In practice we often receive biochemical data for patients who have abnormal endocrine results in the GH-IGF axis and using this information for assessment of variants becomes easier if all the genes known to cause defects in the GH-IGF1 axis have been included in the analysis. Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal Phenotypes: Short stature; dysmorphism; mild microcephaly Publications: 31555216; Durkie et al, 2024 https://www.acgs.uk.com/media/12533/uk-practice-guidelines-for-variant-classification-v12-2024.pdf; to: The following is the review left by Melissa Connolly (WMRGL GLH) for this gene in R147 Growth failure in early childhood panel (https://panelapp.genomicsengland.co.uk/panels/473/gene/PAPPA2/): The addition of this gene to the panel would be useful from a GLH perspective for interpretation purposes. ACGS guidelines state that when trying to incorporate phenotypic data into classification of variants that all other known causes of the phenotype should be excluded. In practice we often receive biochemical data for patients who have abnormal endocrine results in the GH-IGF axis and using this information for assessment of variants becomes easier if all the genes known to cause defects in the GH-IGF1 axis have been included in the analysis. Rating: Green List (high evidence) Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal Phenotypes: Short stature; dysmorphism; mild microcephaly Publications: 31555216; Durkie et al, 2024 https://www.acgs.uk.com/media/12533/uk-practice-guidelines-for-variant-classification-v12-2024.pdf |
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| Monogenic short stature v0.175 | PAPPA2 |
Achchuthan Shanmugasundram commented on gene: PAPPA2: The following is the review left by Melissa Connolly (WMRGL GLH) for this gene in R147 Growth failure in early childhood panel (https://panelapp.genomicsengland.co.uk/panels/473/gene/PAPPA2/): The addition of this gene to the panel would be useful from a GLH perspective for interpretation purposes. ACGS guidelines state that when trying to incorporate phenotypic data into classification of variants that all other known causes of the phenotype should be excluded. In practice we often receive biochemical data for patients who have abnormal endocrine results in the GH-IGF axis and using this information for assessment of variants becomes easier if all the genes known to cause defects in the GH-IGF1 axis have been included in the analysis. Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal Phenotypes: Short stature; dysmorphism; mild microcephaly Publications: 31555216; Durkie et al, 2024 https://www.acgs.uk.com/media/12533/uk-practice-guidelines-for-variant-classification-v12-2024.pdf |
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| Monogenic short stature v0.30 | IGF1R |
Arina Puzriakova gene: IGF1R was added gene: IGF1R was added to Monogenic short stature. Sources: Expert list,Expert Review Green Mode of inheritance for gene: IGF1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: IGF1R were set to Insulin-like growth factor I, resistance to, OMIM:270450 |
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| Monogenic short stature v0.29 | IGF1 | Arina Puzriakova Entity copied from Growth failure in early childhood v3.76 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v0.29 | IGF1 |
Arina Puzriakova gene: IGF1 was added gene: IGF1 was added to Monogenic short stature. Sources: Expert list,Expert Review Green Mode of inheritance for gene: IGF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IGF1 were set to Insulin-like growth factor I deficiency, OMIM:608747 |
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