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DDG2P

Gene: PHACTR1

Amber List (moderate evidence)

PHACTR1 (phosphatase and actin regulator 1)
EnsemblGeneIds (GRCh38): ENSG00000112137
EnsemblGeneIds (GRCh37): ENSG00000112137
OMIM: 608723, Gene2Phenotype
PHACTR1 is in 4 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

New gene:disorder association added to DDG2P on 20/01/2019: PHACTR1-associated neurodevelopment disorder. Original DDG2P rating for PHACTR1-associated neurodevelopment disorder: probable. MOP for PHACTR1-associated neurodevelopment disorder: dominant negative.
Created: 24 Jan 2019, 11:29 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Amber
Phenotypes
  • PHACTR1-associated neurodevelopment disorder
OMIM
608723
Clinvar variants
Variants in PHACTR1
Penetrance
None
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: New gene:disorder association

24 Jan 2019, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: PHACTR1 was added gene: PHACTR1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PHACTR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PHACTR1 were set to 23033978; 30256902 Phenotypes for gene: PHACTR1 were set to PHACTR1-associated neurodevelopment disorder Mode of pathogenicity for gene: PHACTR1 was set to Other - please provide details in the comments