Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: ACTG1
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 5 Mar 2022, 6:18 p.m. | Last Modified: 5 Mar 2022, 6:18 p.m.
Panel Version: 2.65
Comment on list classification: Promoting this gene from red to amber, with the recommendation of green rating following GMS review. More than 3 cases reported with disease-associated variants in this gene, with Trigonocephaly/metopic ridge reported as part of the phenotype.Created: 22 Jul 2021, 2:17 p.m. | Last Modified: 22 Jul 2021, 2:17 p.m.
Panel Version: 2.30
Associated with Baraitser-Winter syndrome 2 OMIM:614583 (AD) in OMIM.
PMID: 22366783 - Rivière et al 2012 - 8 patients with Baraitser-Winter syndrome in which a heterozygous missense mutation was identified in the ACTG1 gene. In 7 patients the mutation was found to have occurred de novo (no parental DNA in 8th patient). Trigonocephaly was noted in 7 of the patients.
PMID: 25052316 - Verloes et al 2015 - report on 1 new case of a patient with a missense variant in ACTG1 (same variant as reported in Riviere et al) and bring together information from the Riviere patients with this one. They state that Trigonocephaly/metopic ridge is reported in 4/8 cases (50%) which contradicts the table in the Riviere paper which puts the number as higher.
PMID: 27240540 - Donato et al 2016 - report on 7 new unrelated patients with 6 mutations in ACTG1. Clinical photographs were available for 6 of these patients, and only 1/6 displayed a metopic ridge.
Sources: LiteratureCreated: 22 Jul 2021, 2:13 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Baraitser-Winter syndrome 2, OMIM:614583
Publications
Tag Q3_21_rating was removed from gene: ACTG1.
Source Expert Review Green was added to ACTG1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: actg1 has been classified as Amber List (Moderate Evidence).
Tag Q3_21_rating tag was added to gene: ACTG1.
gene: ACTG1 was added gene: ACTG1 was added to Craniosynostosis. Sources: Literature missense tags were added to gene: ACTG1. Mode of inheritance for gene: ACTG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ACTG1 were set to 22366783; 25052316; 27240540 Phenotypes for gene: ACTG1 were set to Baraitser-Winter syndrome 2, OMIM:614583 Review for gene: ACTG1 was set to GREEN