Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: MACF1

MACF1 (microtubule-actin crosslinking factor 1)
EnsemblGeneIds (GRCh38): ENSG00000127603
EnsemblGeneIds (GRCh37): ENSG00000127603
OMIM: 608271, Gene2Phenotype
MACF1 is in 7 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

An individual was described with sagittal synostosis and a novel splicing variant in MACF1 (IVS89+1G>A) (PMID:28808027).
Sources: Literature
Created: 23 Jul 2023, 4:12 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
craniosynostosis, MONDO:0015469

Publications

Created: 23 Jul 2023, 4:12 p.m.

Panel version: 4.140

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Literature

Phenotypes

craniosynostosis, MONDO:0015469

OMIM

608271

Clinvar variants

Variants in MACF1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

23 Jul 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: MACF1 was added gene: MACF1 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: MACF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MACF1 were set to 28808027; 36980886 Phenotypes for gene: MACF1 were set to craniosynostosis, MONDO:0015469 Review for gene: MACF1 was set to RED

Rare syndromic craniosynostosis or isolated multisuture synostosis Gene: MACF1