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DDG2P

Gene: PACS2

Amber List (moderate evidence)

PACS2 (phosphofurin acidic cluster sorting protein 2)
EnsemblGeneIds (GRCh38): ENSG00000179364
EnsemblGeneIds (GRCh37): ENSG00000179364
OMIM: 610423, Gene2Phenotype
PACS2 is in 5 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Comment on list classification: Updated rating from Red to Amber to reflect new DDG2P Disease confidence rating of probable for 'Unspecified Neurodevelopmental Disorder' (the previous rating was 'possible').
Created: 19 Apr 2019, 3:18 p.m.
Original DDG2P rating for 'Unspecified Neurodevelopmental Disorder': possible. DDG2P mode of pathogenicity: all missense/in frame. DDG2P mode of inheritance: monoallelic.
Created: 19 Nov 2018, 11:30 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • DD-Gene2Phenotype
Phenotypes
  • Unspecified Neurodevelopmental Disorder
OMIM
610423
Clinvar variants
Variants in PACS2
Penetrance
None
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

19 Apr 2019, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: PACS2 were set to 28867141

19 Apr 2019, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: pacs2 has been classified as Amber List (Moderate Evidence).

29 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: possibl

19 Nov 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: PACS2 was added gene: PACS2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PACS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PACS2 were set to 28867141 Phenotypes for gene: PACS2 were set to Unspecified Neurodevelopmental Disorder Mode of pathogenicity for gene: PACS2 was set to Other - please provide details in the comments