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  3. FASTKD5
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Fetal anomalies

Gene: FASTKD5

Red List (low evidence)
FASTKD5 (FAST kinase domains 5)
EnsemblGeneIds (GRCh38): ENSG00000215251
EnsemblGeneIds (GRCh37): ENSG00000215251
OMIM: 614272, Gene2Phenotype
FASTKD5 is in 2 panels

2 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Alice Gardham (North West Thames Genetics)

Red List (low evidence)

No prenatal phenotype. 1 of 3 reported cases was small but placental insufficiency
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex IV deficiency, nuclear type 24, OMIM:621431

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 24, OMIM:621431
OMIM
614272
Clinvar variants
Variants in FASTKD5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 1

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

Ida Ertmanska (Genomics England Curator)

gene: FASTKD5 was added gene: FASTKD5 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: FASTKD5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FASTKD5 were set to 40499538 Phenotypes for gene: FASTKD5 were set to Mitochondrial complex IV deficiency, nuclear type 24, OMIM:621431