Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: PUF60

PUF60 (poly(U) binding splicing factor 60)
EnsemblGeneIds (GRCh38): ENSG00000179950
EnsemblGeneIds (GRCh37): ENSG00000179950
OMIM: 604819, Gene2Phenotype
PUF60 is in 11 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

A patient presenting with Verheij syndrome, characterised by craniofacial dysmorphism, multiple congenital anomalies and variable neurodevelopmental delay, was identified with a heterozygous variant in the splicing factor PUF60 (c.436C>T; p.Arg146Cys). They displayed fusion of the coronal and sagittal suture (PMID:36367278).
Sources: Literature
Created: 23 Jul 2023, 5:52 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
craniosynostosis, MONDO:0015469

Publications

Created: 23 Jul 2023, 5:52 p.m.

Panel version: 4.154

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Literature

Phenotypes

craniosynostosis, MONDO:0015469

OMIM

604819

Clinvar variants

Variants in PUF60

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: PUF60 was added gene: PUF60 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: PUF60 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PUF60 were set to 36367278; 36980886 Phenotypes for gene: PUF60 were set to craniosynostosis, MONDO:0015469 Review for gene: PUF60 was set to RED

Rare syndromic craniosynostosis or isolated multisuture synostosis Gene: PUF60