Inherited bleeding disorders

Gene: ACTB

Green List (high evidence)

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

1 review

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

PMID: 30315159 describe six individuals from four unrelated families carrying de novo or co-segregating heterozygous variants in exons 5 and 6 of the ACTB gene. Patients are clinically distinct from those with Baraitser-Winter Cerebrofrontofacial syndrome (BWCFF), presenting with mild developmental disability, unspecific minor facial anomalies, microcephaly and thrombocytopenia with platelet anisotropy (variable size including normal and enlarged platelets).
Sources: Literature
Created: 6 Mar 2019, 10:10 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Baraitser-Winter syndrome 1 with macrothrombocytopenia

Publications

History Filter Activity

6 Mar 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: ACTB were changed from Baraitser-Winter syndrome 1 with macrothrombocytopenia to Baraitser-Winter syndrome 1 with macrothrombocytopenia; Platelet disorder

6 Mar 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

6 Mar 2019, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

gene: ACTB was added gene: ACTB was added to Inherited bleeding disorders. Sources: Literature Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACTB were set to 30315159; 22366783 Phenotypes for gene: ACTB were set to Baraitser-Winter syndrome 1 with macrothrombocytopenia Review for gene: ACTB was set to GREEN