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