BRIDGE_SPEED_NEURO_20170705
Gene: PANK2

PANK2 (pantothenate kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000125779
EnsemblGeneIds (GRCh37): ENSG00000125779
OMIM: 606157, Gene2Phenotype
PANK2 is in 12 panels

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_gilissen_2014_known;in_movement_disorder_list;in_UKGTN_v12 . Main mutation mechanism : NA
Created: 28 Jul 2017, 10:30 a.m.

Mode of inheritance
Unknown

Publications

24896178
Personal communication with NIHRBRRD BRIDGE SPEED
Version 12 ukgtn.nhs.uk

Created: 2 Aug 2017, 5:41 p.m.

Panel version: 0.191

Details

Mode of Inheritance

Unknown

Sources

Expert Review Green
BRIDGE study SPEED NEURO Tier1 Gene

Phenotypes

Neurodegeneration with brain iron accumulation 1, 234200
HARP syndrome, 607236

OMIM

606157

Clinvar variants

Variants in PANK2

Penetrance

Complete

Panels with this gene

History Filter Activity

27 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

PANK2 was created by LouiseD

27 Jul 2017, Gel status: 4

Added New Source