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  3. PUF60
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Structural eye disease

Gene: PUF60

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

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Green List (high evidence)

El Chehadeh et al. 2016: 1 case with coloboma amongs others with ID, Low et al. 2017: 2 cases with microphthalmia/coloboma among cases with ID. Missense variants have been reported
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Verheij syndrome, 615583; VRJS; ocular abnormalities; PUF60 syndrome; Chromosome 8q24.3 deletion syndrome

Publications

Mode of pathogenicity
Other - please provide details in the comments

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). El Chehadeh et al. 2016: 1 case with coloboma amongs others with ID, Low et al. 2017: 2 cases with microphthalmia/coloboma among cases with ID. Missense variants have been reported
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Verheij syndrome, 615583; VRJS; ocular abnormalities; PUF60 syndrome; Chromosome 8q24.3 deletion syndrome

Publications

Mode of pathogenicity
Other - please provide details in the comments

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.38

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Verheij syndrome, 615583
  • PUF60 syndrome
  • Chromosome 8q24.3 deletion syndrome
  • VRJS
  • ocular abnormalities
OMIM
604819
Clinvar variants
Variants in PUF60
Penetrance
None
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 4

Added New Source, Set mode of pathogenicity, Set Phenotypes, Set publications

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to PUF60. Mode of pathogenicity for gene PUF60 was changed from to Other - please provide details in the comments Added phenotypes Verheij syndrome, 615583; PUF60 syndrome; Chromosome 8q24.3 deletion syndrome; VRJS; ocular abnormalities for gene: PUF60 Publications for gene PUF60 were changed from 19464398; 24140112; 27804958; 28327570 to 27804958; 24140112; 28327570; 19464398

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: PUF60 was added gene: PUF60 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: PUF60 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PUF60 were set to 19464398; 24140112; 27804958; 28327570 Phenotypes for gene: PUF60 were set to Verheij syndrome, 615583; VRJS; ocular abnormalities; PUF60 syndrome; Chromosome 8q24.3 deletion syndrome