IUGR and IGF abnormalities

Gene: PAPPA2

Green List (high evidence)

PAPPA2 (pappalysin 2)
EnsemblGeneIds (GRCh38): ENSG00000116183
EnsemblGeneIds (GRCh37): ENSG00000116183
PAPPA2 is in 1 panel

3 reviews

Peter Clayton (University of Manchester)

Green List (high evidence)

Philip Murray (University of Manchester)

Green List (high evidence)

Richard Scott (Genomics England Curator)

Comment on list classification: 2 families with good functional evidence
2 May 2016, 9:13 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Proportionate Short Stature, High Circulating IGF-I, IGFBP-3, and ALS, Mild Microcephaly, thin Long Bones and Decreased Bone Mineral Density
Clinvar variants
Variants in PAPPA2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

2 May 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

2 May 2016, Gel status: 4

Set publications

Richard Scott (Genomics England Curator)

Publications for PAPPA2 were set to 26902202

2 May 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 Oct 2015, Gel status: 0

Created

Philip Murray (University of Manchester)

PAPPA2 was created by PhilMurray

25 Oct 2015, Gel status: 0

Added New Source

Philip Murray (University of Manchester)

PAPPA2 was added to IUGR and IGF abnormalitiespanel. Sources: Expert Review