Bone Marrow Failure

Gene: ACTB

Green List (high evidence)

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

2 reviews

Santosh Varughese (University of Melbourne)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Dystonia-Deafness Syndrome 1; Baraitser-Winter Syndrome 1; Becker Nevus Syndrome and Becker Nevi; Congenital Smooth Muscle Hamartoma with or without Hemihypertrophy; Thrombocytopenia 8 with Dysmorphic Features and Developmental Delay

Publications

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

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Six unrelated individuals reported with heterozygous variants clustered in the 3'-coding region of ACTB (exons 5 and 6) and clinical features distinct from BWCFF, including mild developmental disability, microcephaly, and thrombocytopenia with platelet anisotropy.
Sources: Expert list
Created: 12 Dec 2023, 10:56 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Thrombocytopenia 8, with dysmorphic features and developmental delay, MIM# 620475

Publications

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

History Filter Activity

15 Dec 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

12 Dec 2023, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

12 Dec 2023, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: ACTB was added gene: ACTB was added to Bone Marrow Failure. Sources: Expert list Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACTB were set to PMID: 30315159 Phenotypes for gene: ACTB were set to Thrombocytopenia 8, with dysmorphic features and developmental delay, MIM# 620475 Review for gene: ACTB was set to GREEN gene: ACTB was marked as current diagnostic