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Standards Ontologies Notations
Baraitser-Winter syndrome 1

Summary
Definition
A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTB gene on chromosome 7p22. A subset of patients have a larger deletion of chromosome 7p22 including the ACTB gene and additional variable genes, consistent with a contiguous gene deletion syndrome.
Super Class
Baraitser-Winter syndrome autosomal dominant disease
External Links
Disease Ontology
DOID:0081112
Mondo Disease Ontology
OMIM
Related Genes
Displaying all 6 entries
Gene ID Gene Symbol Description Source
58 ACTA1 actin alpha 1, skeletal muscle
59 ACTA2 actin alpha 2, smooth muscle
60 ACTB actin beta
70 ACTC1 actin alpha cardiac muscle 1
71 ACTG1 actin gamma 1
345651 ACTBL2 actin beta like 2
Displaying all 6 entries
Gene ID Gene Symbol Description Source
11459 Acta1 actin alpha 1, skeletal muscle
11461 Actb actin, beta
11464 Actc1 actin, alpha, cardiac muscle 1
11465 Actg1 actin, gamma, cytoplasmic 1
11475 Acta2 actin alpha 2, smooth muscle, aorta
238880 Actbl2 actin, beta-like 2
Displaying all 3 entries
Gene ID Gene Symbol Description Source
29275 Actc1 actin, alpha, cardiac muscle 1
29437 Acta1 actin, alpha 1, skeletal muscle
81822 Actb actin, beta
The Human Phenotype Ontology
Displaying entries 81 - 83 of 83 in total
HPO ID HPO Term
HP:0008897 Postnatal growth retardation
HP:0010066 Duplication of phalanx of hallux
HP:0011800 Midface retrusion
Displaying all 2 entries
Gene ID Gene Symbol Description
60 ACTB actin beta
71 ACTG1 actin gamma 1
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: August 19, 2024