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| Paediatric disorders - additional genes v3.5 | PAPPA2 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: PAPPA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v3.5 | PAPPA2 | Achchuthan Shanmugasundram commented on gene: PAPPA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v3.5 | PAPPA2 | Arina Puzriakova Tag Q1_23_promote_green was removed from gene: PAPPA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v3.5 | PAPPA2 | Arina Puzriakova edited their review of gene: PAPPA2: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v3.4 | PAPPA2 |
Arina Puzriakova Source Expert Review Green was added to PAPPA2. Source NHS GMS was added to PAPPA2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Paediatric disorders - additional genes v2.5 | PAPPA2 | Arina Puzriakova Classified gene: PAPPA2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v2.5 | PAPPA2 | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v2.5 | PAPPA2 | Arina Puzriakova Gene: pappa2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v2.4 | PAPPA2 |
Arina Puzriakova gene: PAPPA2 was added gene: PAPPA2 was added to Paediatric disorders - additional genes. Sources: Expert list Q1_23_promote_green 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; 34272725 Phenotypes for gene: PAPPA2 were set to Short stature, Dauber-Argente type, OMIM:619489 Added comment: At least 9 individuals from 5 unrelated families reported in literature with biallelic variants in this gene (PMID: 26902202; 33875846; 34272725). Clinical presentation is most notable for short stature, mild/moderate microcephaly, and dysmorphic features. Growth restriction typically becomes apparent with age. Sources: Expert list |
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