Bone Marrow Failure
Gene: ACTB
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
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 listCreated: 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
Gene: actb has been classified as Green List (High Evidence).
Gene: actb has been classified as Green List (High Evidence).
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