IUGR and IGF abnormalities
Gene: PAPPA2Comment on publications: Added new publication PMID:33875846Created: 30 Nov 2021, 10:36 a.m. | Last Modified: 30 Nov 2021, 10:36 a.m.
Panel Version: 1.46
"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: 33875846Created: 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
Comment on list classification: 2 families with good functional evidenceCreated: 2 May 2016, 9:13 p.m.
Publications for gene: PAPPA2 were set to 26902202
This gene has been classified as Green List (High Evidence).
Publications for PAPPA2 were set to 26902202
This gene has been classified as Green List (High Evidence).
PAPPA2 was added to IUGR and IGF abnormalitiespanel. Sources: Expert Review
PAPPA2 was created by PhilMurray