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| Bone Marrow Failure v1.91 | ACTB | Santosh Varughese reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: None; Publications: 32170967, 24458642, 28347698, 28487785, 29220674, 11311002, 23756437, 2837653, 31970217, 10928857, 12325076; 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; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.79 | ACTB | Zornitza Stark Marked gene: ACTB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.79 | ACTB | Zornitza Stark Gene: actb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.65 | ACTB | Chirag Patel Classified gene: ACTB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.65 | ACTB | Chirag Patel Gene: actb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.64 | ACTB |
Chirag Patel 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 Added comment: 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 |
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