Clefting
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)

Clefting has only been identified in a minor fraction of patients with monoallelic variants in PUF60 gene and hence this gene should be rated red in this panel.

PMID:24140112 - One patient identified with heterozygous variant in PUF60 gene (p.His169Tyr) had cleft palate.

PMID:27804958 - Five patients were reported with sequence variants in PUF60 gene and none of them had cleft lip/ palate as one of the clinical presentations.

DECIPHER database - Of 27 patients with heterozygous sequence variants in PUF60, only one had submucous cleft hard palate.
Sources: Literature
Created: 24 Jun 2023, 10:01 a.m. | Last Modified: 24 Jun 2023, 10:03 a.m.

Panel Version: 4.70

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Verheij syndrome, OMIM:615583

Publications

Created: 24 Jun 2023, 10:01 a.m.
Last Modified: 24 Jun 2023, 10:03 a.m.
Panel version: 4.70

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Literature

Phenotypes

Verheij syndrome, OMIM:615583

OMIM

604819

Clinvar variants

Variants in PUF60

Penetrance

None

Publications

Panels with this gene

History Filter Activity

24 Jun 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 Clefting. Sources: Literature Mode of inheritance for gene: PUF60 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PUF60 were set to 24140112; 27804958; 37010288 Phenotypes for gene: PUF60 were set to Verheij syndrome, OMIM:615583 Review for gene: PUF60 was set to RED

Clefting Gene: PUF60