Malformations of cortical development

Gene: ACTB

Green List (high evidence)

ACTB (actin beta)
EnsemblGeneIds (GRCh38): ENSG00000075624
EnsemblGeneIds (GRCh37): ENSG00000075624
OMIM: 102630, Gene2Phenotype
ACTB is in 17 panels

2 reviews

Alice Gardham (Genomics England)

Comment when marking as ready: Recognised on G2P
Created: 15 Dec 2016, 3:31 p.m.

Usha Kini (Oxford Centre for Genomic Medicine)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Baraitser Winter syndrome (lissencephaly, pachygyria, polymicrogyria, ptosis, coloboma)

Variants in this GENE are reported as part of current diagnostic practice

Details

History Filter Activity

15 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

15 Dec 2016, Gel status: 0

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been removed from the panel.

15 Dec 2016, Gel status: 0

Upload gene information

Alice Gardham (Genomics England)

ACTB was added to Malformations of cortical developmentpanel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen

8 Dec 2016, Gel status: 0

Added New Source

Usha Kini (Oxford Centre for Genomic Medicine)

ACTB was added to Malformations of cortical developmentpanel. Sources: Expert Review

8 Dec 2016, Gel status: 0

Created

Usha Kini (Oxford Centre for Genomic Medicine)

ACTB was created by Ushak