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| Growth failure in early childhood v3.94 | PAPPA2 | Melissa Connolly reviewed gene: PAPPA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31555216, Durkie et al, 2024 https://www.acgs.uk.com/media/12533/uk-practice-guidelines-for-variant-classification-v12-2024.pdf; Phenotypes: Short stature, dysmorphism, mild microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v3.94 | PAPPA2 | Melissa Connolly Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v3.94 | PAPPA2 | Melissa Connolly reviewed gene: PAPPA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31555216, Durkie et al, 2024 https://www.acgs.uk.com/media/12533/uk-practice-guidelines-for-variant-classification-v12-2024.pdf; Phenotypes: Short stature, frontal bossing, prognathism, juvenile cataracts; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v3.3 | PAPPA2 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: PAPPA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v3.3 | PAPPA2 | Achchuthan Shanmugasundram commented on gene: PAPPA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v2.33 | PAPPA2 |
Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: PAPPA2. Tag Q3_22_expert_review was removed from gene: PAPPA2. |
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| Growth failure in early childhood v2.33 | PAPPA2 | Catherine Snow commented on gene: PAPPA2: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains RED. The additional comments from GLH's is "No model to prove genotype to phenotype association. Individuals in Dauber et al 2016 (PMID:26902202) would not meet eligibility criteria for R147 (height). Siblings in Babiker et al 2021 (PMID: 34272725) meet height criteria but both have moderate microcephaly. Remain as amber until further information is available to support inclusion in this panel." | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v2.33 | PAPPA2 | Catherine Snow commented on gene: PAPPA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v2.32 | PAPPA2 | Catherine Snow Source NHS GMS was added to PAPPA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v2.31 | PAPPA2 | Arina Puzriakova changed review comment from: This gene was recently reviewed by the Endocrine Specialist Group (Sept 2022) and it was decided that there is not enough evidence to support this gene-disease association and therefore should remain Red. Cases expected to be picked up via other routes (e.g. ID, skeletal dysplasia, eye panels); to: This gene was recently reviewed by the Endocrine Specialist Group (Sept 2022) and it was decided that there is not enough evidence to support this gene-disease association and therefore should remain Red. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v2.31 | PAPPA2 | Arina Puzriakova commented on gene: PAPPA2: This gene was recently reviewed by the Endocrine Specialist Group (Sept 2022) and it was decided that there is not enough evidence to support this gene-disease association and therefore should remain Red. Cases expected to be picked up via other routes (e.g. ID, skeletal dysplasia, eye panels) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v2.12 | PAPPA2 | Arina Puzriakova reviewed gene: PAPPA2: Rating: ; Mode of pathogenicity: None; Publications: 26902202, 33875846, 34272725; Phenotypes: Short stature, Dauber-Argente type, OMIM:619489; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v2.12 | PAPPA2 | Arina Puzriakova Phenotypes for gene: PAPPA2 were changed from Proportionate Short Stature, High Circulating IGF-I, IGFBP-3, and ALS, Mild Microcephaly, thin Long Bones and Decreased Bone Mineral Density to Short stature, Dauber-Argente type, OMIM:619489 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v2.5 | PAPPA2 | Eleanor Williams reviewed gene: PAPPA2: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.109 | PAPPA2 | Ivone Leong Tag Q3_22_rating tag was added to gene: PAPPA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.109 | PAPPA2 | Ivone Leong Tag Q3_22_expert_review tag was added to gene: PAPPA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.93 | PAPPA2 | Ivone Leong Publications for gene: PAPPA2 were set to 26902202 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.90 | PAPPA2 | Dmitrijs Rots reviewed gene: PAPPA2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33875846, 26902202; Phenotypes: Short stature, dysmorphism, mild microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v0.23 | PAPPA2 | Rebecca Foulger reviewed gene: PAPPA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v0.22 | PAPPA2 |
Rebecca Foulger Source Expert Review Red was added to PAPPA2. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Growth failure in early childhood v0.1 | PAPPA2 |
Ellen McDonagh gene: PAPPA2 was added gene: PAPPA2 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: PAPPA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PAPPA2 were set to 26902202 Phenotypes for gene: PAPPA2 were set to Proportionate Short Stature, High Circulating IGF-I, IGFBP-3, and ALS, Mild Microcephaly, thin Long Bones and Decreased Bone Mineral Density |
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