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  3. ACTB
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Craniosynostosis

Gene: ACTB

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Ridged metopic feature is a key feature.
Created: 2 Jul 2020, 10:24 a.m. | Last Modified: 2 Jul 2020, 10:24 a.m.
Panel Version: 0.81

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Baraitser-Winter syndrome 1, MIM# 243310

Created: 2 Jul 2020, 10:24 a.m.
Last Modified: 2 Jul 2020, 10:24 a.m.
Panel version: 0.81

History Filter Activity

3 Jul 2020, 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).

3 Jul 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ACTB were changed from to Baraitser-Winter syndrome 1, MIM# 243310

3 Jul 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ACTB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ACTB was added gene: ACTB was added to Craniosynostosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ACTB was set to Unknown