Ocular coloboma

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 10 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Confirmed gene in Developmental Disorders Genotype-Phenotype Database (DDG2P) for PUF60 syndrome. Recent papers PMID:28327570 (2017) and PMID:27804958 (2016) give additional evidence not yet captured in OMIM/current diagnostics. Initially just classed as a micodeletion but subseqent recent papers have pinpointed PUF60 variants so there is enough evidence for LOF in PUF60 itself. In 2013, patients with microdeletions of chromosome 8q24.3 including PUF60 were found to have developmental delay, microcephaly, craniofacial, renal and cardiac defects (PMID: 24140112). In 2017 (PMID: 28327570) very similar phenotypes have been described in six patients with variants in PUF60, suggesting that it underlies the syndrome and they reported 12 additional patients with PUF60 variants, all patients had de novo heterozygous PUF60 variants on exome analysis, each confirmed by Sanger sequencing - four frameshift variants resulting in premature stop codons, three missense variants that clustered within the RNA recognition motif of PUF60 and five essential splice-site (ESS) variant. The consistent feature was developmental delay and most patients had short stature. Heterozygote loss-of-function variants in PUF60 caused a phenotype comprising growth/developmental delay and craniofacial, cardiac, renal, ocular and spinal anomalies, adding to disorders of human development resulting from aberrant RNA processing/spliceosomal function. Added microdeletion tag, as this might be important in relation to CNV calls.
Created: 1 Nov 2017, 11:15 a.m.
Comment on phenotypes: added phenotypes
Created: 1 Nov 2017, 11:12 a.m.
Comment on phenotypes: Verheij syndrome, 615583; VRJS; Chromosome 8q24.3 deletion syndrome; PUF60 syndrome; ocular abnormalities
Created: 1 Nov 2017, 11:12 a.m.
Comment on list classification: Additional cases for Verheij syndrome
Created: 1 Nov 2017, 11:11 a.m.

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

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

Publications

Richard Scott (Genomics England Curator)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
615583

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Verheij syndrome, 615583
  • VRJS
  • Chromosome 8q24.3 deletion syndrome
  • PUF60 syndrome
  • ocular abnormalities
Tags
microdeletion
OMIM
604819
Clinvar variants
Variants in PUF60
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

1 Nov 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

1 Nov 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for PUF60 were set to 615583

1 Nov 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Nov 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for PUF60 were set to 28327570; 27804958; 24140112;19464398

6 Feb 2017, Gel status: 0

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on 6th February 2016 by Alice Gardham

7 Nov 2016, Gel status: 0

Added New Source

Richard Scott (Genomics England Curator)

PUF60 was added to Ocular colobomapanel. Sources: Expert Review

7 Nov 2016, Gel status: 0

Created

Richard Scott (Genomics England Curator)

PUF60 was created by richardhywel