Recurrent episodic apnoea
Gene: SLC2A1
The rating of this gene has been set to Amber following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 2:43 p.m. | Last Modified: 1 Feb 2023, 2:43 p.m.
Panel Version: 0.91
Comment on classification: This gene should be rated AMBER as this gene has been implicated in apnoea from two unrelated cases (one case each from PMID:22814174 & PMID:29306089)
This gene has been associated with phenotypes in both OMIM and G2P. However, none of the phenotypes from OMIM have any reference to apnoea.Created: 2 Jan 2023, 11:22 p.m. | Last Modified: 2 Jan 2023, 11:22 p.m.
Panel Version: 0.45
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Dystonia 9, OMIM:601042; GLUT1 deficiency syndrome 1, infantile onset, severe, OMIM:606777; GLUT1 deficiency syndrome 2, childhood onset, OMIM:612126; Stomatin-deficient cryohydrocytosis with neurologic defects, OMIM:608885; {Epilepsy, idiopathic generalized, susceptibility to, 12}, OMIM:614847
Publications
Gene added on recommendation of Dr Emma Matthews.Created: 21 Dec 2022, 2:49 p.m. | Last Modified: 21 Dec 2022, 2:49 p.m.
Panel Version: 0.2
Phenotypes for gene: SLC2A1 were changed from to Dystonia 9, OMIM:601042; GLUT1 deficiency syndrome 1, infantile onset, severe, OMIM:606777; GLUT1 deficiency syndrome 2, childhood onset, OMIM:612126; Stomatin-deficient cryohydrocytosis with neurologic defects, OMIM:608885; {Epilepsy, idiopathic generalized, susceptibility to, 12}, OMIM:614847
Publications for gene: SLC2A1 were set to
Mode of inheritance for gene: SLC2A1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene: slc2a1 has been classified as Amber List (Moderate Evidence).
gene: SLC2A1 was added gene: SLC2A1 was added to Reccurent episodic apnoea. Sources: Expert list Mode of inheritance for gene: SLC2A1 was set to