Genes in panel

Neurodegenerative disorders - adult onset

Gene: FASTKD2

Red List (low evidence)

FASTKD2 (FAST kinase domains 2)
EnsemblGeneIds (GRCh38): ENSG00000118246
EnsemblGeneIds (GRCh37): ENSG00000118246
OMIM: 612322, Gene2Phenotype
FASTKD2 is in 11 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Red List (low evidence)

Associated with Mitochondrial complex IV deficiency
Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex IV deficiency, 220110

History Filter Activity

23 Jul 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to FASTKD2.

23 Jul 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to FASTKD2.

25 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Gene awaiting curator evaluati

18 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: FASTKD2 was added gene: FASTKD2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: FASTKD2 was set to Unknown Phenotypes for gene: FASTKD2 were set to Dystonia