BRIDGE_SPEED_NEURO_v2.0_20160416
Gene: PSPH

PSPH (phosphoserine phosphatase)
EnsemblGeneIds (GRCh38): ENSG00000146733
EnsemblGeneIds (GRCh37): ENSG00000146733
OMIM: 172480, Gene2Phenotype
PSPH is in 8 panels

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; GEL_ID_green_20160217; neuro_20160418_strict; All missense/in frame; Loss of function
Created: 7 Feb 2017, 4:48 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Phosphoserine phosphatase deficiency, 614023

Mode of pathogenicity
Other - please provide details in the comments

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

Created: 7 Feb 2017, 4:48 p.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

BRIDGE

Phenotypes

Phosphoserine phosphatase deficiency, 614023

OMIM

172480

Clinvar variants

Variants in PSPH

Penetrance

Complete

Panels with this gene

History Filter Activity

7 Feb 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PSPH was added to BRIDGE_SPEED_NEURO_v2.0_20160416panel. Sources: BRIDGE

7 Feb 2017, Gel status: 0

Created