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  2. Craniosynostosis
  3. ACTG1
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Craniosynostosis

Gene: ACTG1

Green List (high evidence)
ACTG1 (actin gamma 1)
EnsemblGeneIds (GRCh38): ENSG00000184009
EnsemblGeneIds (GRCh37): ENSG00000184009
OMIM: 102560, Gene2Phenotype
ACTG1 is in 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Metopic ridging is a key feature of this condition.
Created: 2 Jul 2020, 10:27 a.m. | Last Modified: 2 Jul 2020, 10:27 a.m.
Panel Version: 0.81

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Baraitser-Winter syndrome 2, MIM# 614583

Created: 2 Jul 2020, 10:27 a.m.
Last Modified: 2 Jul 2020, 10:27 a.m.
Panel version: 0.81

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Baraitser-Winter syndrome 2, MIM# 614583
OMIM
102560
Clinvar variants
Variants in ACTG1
Penetrance
None
Panels with this gene

History Filter Activity

3 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: actg1 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: ACTG1 were changed from to Baraitser-Winter syndrome 2, MIM# 614583

3 Jul 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ACTG1 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: ACTG1 was added gene: ACTG1 was added to Craniosynostosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ACTG1 was set to Unknown