Activity
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11 actions
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| Monogenic short stature v1.27 | PAPPA2 | Ida Ertmanska commented on gene: PAPPA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v1.26 | PAPPA2 |
Ida Ertmanska Tag Q3_24_promote_green was removed from gene: PAPPA2. Tag Q3_24_NHS_review was removed from gene: PAPPA2. Tag Q3_24_expert_review was removed from gene: PAPPA2. Tag to_be_confirmed_NHSE tag was added to gene: PAPPA2. |
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| Monogenic short stature v1.26 | PAPPA2 | Ida Ertmanska commented on gene: PAPPA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v1.1 | PAPPA2 |
Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: PAPPA2. Tag Q1_24_NHS_review was removed from gene: PAPPA2. Tag Q1_24_expert_review was removed from gene: PAPPA2. Tag Q3_24_promote_green tag was added to gene: PAPPA2. Tag Q3_24_NHS_review tag was added to gene: PAPPA2. Tag Q3_24_expert_review tag was added to gene: PAPPA2. |
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| Monogenic short stature v0.176 | PAPPA2 | Arina Puzriakova Publications for gene: PAPPA2 were set to 26902202; 33875846 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v0.175 | PAPPA2 | Arina Puzriakova commented on gene: PAPPA2: Inclusion of the PAPPA2 gene on this panel was previously reviewed and disagreed by the GMS expert group. However, this should now be re-evaluated in light of the new review Melissa Connolly (WMRGL GLH) stating that inclusion would benefit GLH interpretation. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v0.175 | PAPPA2 |
Arina Puzriakova Tag Q1_24_promote_green tag was added to gene: PAPPA2. Tag Q1_24_NHS_review tag was added to gene: PAPPA2. Tag Q1_24_expert_review tag was added to gene: PAPPA2. |
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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 v0.137 | PAPPA2 | Arina Puzriakova Entity copied from Growth failure in early childhood v3.81 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v0.137 | PAPPA2 |
Arina Puzriakova gene: PAPPA2 was added gene: PAPPA2 was added to Monogenic short stature. Sources: Expert Review Red,NHS GMS gene-checked tags were added to gene: PAPPA2. Mode of inheritance for gene: PAPPA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PAPPA2 were set to 26902202; 33875846 Phenotypes for gene: PAPPA2 were set to Short stature, Dauber-Argente type, OMIM:619489 |
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