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| Inherited bleeding disorders v1.153 | ACTB | Louise Daugherty Phenotypes for gene: ACTB were changed from Baraitser-Winter syndrome 1 with macrothrombocytopenia to Baraitser-Winter syndrome 1 with macrothrombocytopenia; Platelet disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited bleeding disorders v1.152 | ACTB | Louise Daugherty Classified gene: ACTB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited bleeding disorders v1.152 | ACTB | Louise Daugherty Gene: actb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited bleeding disorders v1.151 | ACTB |
Louise Daugherty 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 Added comment: 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 |
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