Paediatric disorders - additional genes
Gene: PAPPA2The OMIM entry for this gene is OMIM:619485, which has been cross-checked with Ensembl, HGNC and G2P. Hence, gene-checked tag has been added.Created: 17 Oct 2023, 11:31 a.m. | Last Modified: 17 Oct 2023, 11:31 a.m.
Panel Version: 3.5
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.Created: 11 Oct 2023, 1:16 p.m. | Last Modified: 11 Oct 2023, 1:16 p.m.
Panel Version: 3.5
Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.Created: 5 Jan 2023, 4:23 p.m. | Last Modified: 5 Jan 2023, 4:23 p.m.
Panel Version: 2.5
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 listCreated: 5 Jan 2023, 4:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short stature, Dauber-Argente type, OMIM:619489
Publications
Tag gene-checked tag was added to gene: PAPPA2.
Tag Q1_23_promote_green was removed from gene: PAPPA2.
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)
Gene: pappa2 has been classified as Amber List (Moderate Evidence).
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