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Newborns main panel

Gene: PAPPA2

Amber List (moderate evidence)
PAPPA2 (pappalysin 2)
EnsemblGeneIds (GRCh38): ENSG00000116183
EnsemblGeneIds (GRCh37): ENSG00000116183
PAPPA2 is in 3 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 26902202 (2 families), PMID: 34272725 (1 family), PMID: 33875846 (1 patient and 1 paient with same variant as PMID 34272725 not clear if this is the same patient but there is overlap in authorshi between the two papers so it probably is)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • PAPPA2 associated short stature
Clinvar variants
Variants in PAPPA2
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to PAPPA2. Added phenotypes PAPPA2 associated short stature for gene: PAPPA2 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to PAPPA2. Added phenotypes PAPPA2 associated short stature for gene: PAPPA2 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to PAPPA2. Added phenotypes PAPPA2 associated short stature for gene: PAPPA2 Rating Changed from No List (delete) to Amber List (moderate evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to PAPPA2. Rating Changed from Red List (low evidence) to No List (delete)

27 Mar 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Mafalda Gomes (Genomics England Curator)

gene: PAPPA2 was added gene: PAPPA2 was added to Newborns main panel. Sources: Expert Review Red Mode of inheritance for gene: PAPPA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PAPPA2 were set to PAPPA2 associated short stature