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DDG2P

Gene: ACTB

Green List (high evidence)

ACTB (actin beta)
EnsemblGeneIds (GRCh38): ENSG00000075624
EnsemblGeneIds (GRCh37): ENSG00000075624
OMIM: 102630, Gene2Phenotype
ACTB is in 20 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for BARAITSER-WINTER SYNDROME.
Created: 28 Jan 2019, 2:29 p.m.
Comment on publications: 100000 and 22366783 provided in original DDG2P download.
Created: 19 Nov 2018, 1:39 p.m.
Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
Created: 19 Nov 2018, 1:37 p.m.
Multiple MOPs in DD-G2P download: all missense/in frame, loss of function. Multiple ratings in DD-G2P download: Rated confirmed for BARAITSER-WINTER SYNDROME and rated probable for ACTB Haploinsufficiency syndtome.
Created: 19 Nov 2018, 11:29 a.m.

History Filter Activity

29 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Multiple MOPs in DD-G2P downlo

28 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: actb has been classified as Green List (High Evidence).

19 Nov 2018, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: ACTB were set to 100000

19 Nov 2018, Gel status: 2

Added Tag

Rebecca Foulger (Genomics England curator)

Tag watchlist tag was added to gene: ACTB.

19 Nov 2018, Gel status: 2

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes ACTB Haploinsufficiency syndtome for gene: ACTB Publications for gene ACTB were changed from 22366783 to 100000

19 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: ACTB was added gene: ACTB was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ACTB were set to 22366783 Phenotypes for gene: ACTB were set to BARAITSER-WINTER SYNDROME