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DDG2P

Gene: FASTKD5

Green List (high evidence)
FASTKD5 (FAST kinase domains 5)
EnsemblGeneIds (GRCh38): ENSG00000215251
EnsemblGeneIds (GRCh37): ENSG00000215251
OMIM: 614272, Gene2Phenotype
FASTKD5 is in 1 panel

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for FASTKD5-related Leigh syndrome are moderate, biallelic_autosomal and loss of function (PMID:40499538). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03753.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
FASTKD5-related Leigh syndrome; MONDO:0009723

Publications

Created: 13 Feb 2026, 9:26 p.m.
Last Modified: 13 Feb 2026, 9:26 p.m.
Panel version: 6.17

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MONDO:0009723
  • FASTKD5-related Leigh syndrome
OMIM
614272
Clinvar variants
Variants in FASTKD5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: FASTKD5 was added gene: FASTKD5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype 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 MONDO:0009723; FASTKD5-related Leigh syndrome