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  2. Congenital myopathy
  3. FOXK2
STRs in panel
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Congenital myopathy

Gene: FOXK2

No list
FOXK2 (forkhead box K2)
EnsemblGeneIds (GRCh38): ENSG00000141568
EnsemblGeneIds (GRCh37): ENSG00000141568
OMIM: 147685, Gene2Phenotype
FOXK2 is in 1 panel

1 review

Anna Sarkozy (Great Ormond Street Hospital)

Green List (high evidence)

five pedigrees with congenital myopathy and ptosis
Created: 27 May 2026, 9:42 a.m. | Last Modified: 27 May 2026, 9:42 a.m.
Panel Version: 7.25

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

Created: 27 May 2026, 9:42 a.m.
Last Modified: 27 May 2026, 9:42 a.m.
Panel version: 7.25

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • NHS GMS
OMIM
147685
Clinvar variants
Variants in FOXK2
Penetrance
None
Panels with this gene

History Filter Activity

27 May 2026, Gel status: 0

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: foxk2 has been removed from the panel.

27 May 2026, Gel status: 1

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: FOXK2 was added gene: FOXK2 was added to Congenital myopathy. Sources: NHS GMS Mode of inheritance for gene: FOXK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown