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  2. IUGR and IGF abnormalities
  3. PAPPA2
STRs in panel
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IUGR and IGF abnormalities

Gene: PAPPA2

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

5 reviews

Ivone Leong (Genomics England Curator)

Comment on publications: Added new publication PMID:33875846
Created: 30 Nov 2021, 10:36 a.m. | Last Modified: 30 Nov 2021, 10:36 a.m.
Panel Version: 1.46
Created: 30 Nov 2021, 10:36 a.m.
Last Modified: 30 Nov 2021, 10:36 a.m.
Panel version: 1.46

Dmitrijs Rots (Children's Clinical University Hospital)

Green List (high evidence)

"Dauber et al. reported the finding of two homozygous variants (missense and frameshift) in two unrelated families, with several children having significant postnatal growth retardation, long thin bones, long fingers and toes, mild microcephaly, abnormal dentine and teeth enamel, and mild dysmorphisms." with functional evidence in PMID: 26902202.
Now also "two patients with short stature and dysmorphic features with no evident NDD" reported in PMID: 33875846
Created: 30 Oct 2021, 11:43 a.m. | Last Modified: 30 Oct 2021, 11:43 a.m.
Panel Version: 1.41

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short stature; dysmorphism; mild microcephaly

Publications

Created: 30 Oct 2021, 11:43 a.m.
Last Modified: 30 Oct 2021, 11:43 a.m.
Panel version: 1.41

Peter Clayton (University of Manchester)

Green List (high evidence)

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

Philip Murray (University of Manchester)

Green List (high evidence)

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

Richard Scott (Genomics England Curator)

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

Panel version: 0.209

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

30 Nov 2021, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: 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).

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

Added New Source

Philip Murray (University of Manchester)

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

25 Oct 2015, Gel status: 0

Created

Philip Murray (University of Manchester)

PAPPA2 was created by PhilMurray