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Inborn errors of metabolism

Gene: FASTKD2

Green List (high evidence)

FASTKD2 (FAST kinase domains 2)
EnsemblGeneIds (GRCh38): ENSG00000118246
EnsemblGeneIds (GRCh37): ENSG00000118246
OMIM: 612322, Gene2Phenotype
FASTKD2 is in 12 panels

2 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex IV Deficiency
  • Mitochondrial complex IV deficiency, 220110
  • Isolated complex IV deficiency
  • Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
OMIM
612322
Clinvar variants
Variants in FASTKD2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to FASTKD2. Source London North GLH was added to FASTKD2.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency; Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency for gene: FASTKD2

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: FASTKD2 was added gene: FASTKD2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: FASTKD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FASTKD2 were set to 27604308 Phenotypes for gene: FASTKD2 were set to Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency; Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)