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Paediatric disorders - additional genes

Gene: PAPPA2

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

The 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
Created: 17 Oct 2023, 11:31 a.m.
Last Modified: 17 Oct 2023, 11:31 a.m.
Panel version: 3.5

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

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 list
Created: 5 Jan 2023, 4:22 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short stature, Dauber-Argente type, OMIM:619489

Publications

Created: 5 Jan 2023, 4:22 p.m.

Panel version: 3.5

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Short stature, Dauber-Argente type, OMIM:619489
Tags
gene-checked
Clinvar variants
Variants in PAPPA2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Oct 2023, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag gene-checked tag was added to gene: PAPPA2.

11 Oct 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q1_23_promote_green was removed from gene: PAPPA2.

11 Oct 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

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)

5 Jan 2023, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: pappa2 has been classified as Amber List (Moderate Evidence).

5 Jan 2023, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

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