Intellectual disability update Jan 2018
Gene: PUDP

PUDP (pseudouridine 5'-phosphatase)
EnsemblGeneIds (GRCh38): ENSG00000130021
EnsemblGeneIds (GRCh37): ENSG00000130021
OMIM: 306480, Gene2Phenotype
PUDP is in 1 panel

1 review

Olivia Niblock (Genomics England Curator)

Red List (low evidence)

Little evidence to suggest that variants in this gene are linked to Intellectual disability. One paper describes a child of a consanguineous family presenting with intellectual disability, with testing finding that the child had a deletion encompassing this gene among several others. There is no further evidence from the literature or the four sources.
Created: 22 Feb 2018, 4:04 p.m.

Publications

23791652

Created: 22 Feb 2018, 4:04 p.m.

Panel version: 0.73

Details

Sources

Expert Review Red

OMIM

306480

Clinvar variants

Variants in PUDP

Penetrance

None

Panels with this gene

Intellectual disability

History Filter Activity

18 Dec 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PUDP was added to Intellectual disability update Jan 2018 panel. Sources: Expert Review Red

18 Dec 2017, Gel status: 1

Created