Radial dysplasia

Gene: PUF60

Red List (low evidence)

PUF60 (poly(U) binding splicing factor 60)
EnsemblGeneIds (GRCh38): ENSG00000179950
EnsemblGeneIds (GRCh37): ENSG00000179950
OMIM: 604819, Gene2Phenotype
PUF60 is in 8 panels

2 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Marked as red on radial dysplasias as the reported limb features to date, do not fit with the scope of this panel. Reported features include syndactyly and clenched thumbs. Review by Richard Scott was imported with a batch from VACTERL-like panel which is a more appropriate fit for PUF60.
Created: 11 May 2017, 1:07 p.m.

Richard Scott (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
615583

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Verheij syndrome, 615583
OMIM
604819
Clinvar variants
Variants in PUF60
Penetrance
Complete
Panels with this gene

History Filter Activity

23 May 2017, Gel status: 1

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

23.05.2017: Panel revised and approved to Version 1.0 after expert review.

11 May 2017, Gel status: 1

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

11 May 2017, Gel status: 0

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for PUF60 were set to Verheij syndrome, 615583

7 Nov 2016, Gel status: 0

Added New Source

Richard Scott (Genomics England Curator)

PUF60 was added to Radial dysplasiapanel. Sources: Expert Review

7 Nov 2016, Gel status: 0

Created

Richard Scott (Genomics England Curator)

PUF60 was created by richardhywel