Recurrent episodic apnoea
Gene: ARHGEF9
The rating of this gene has been set to Red 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 RED as there is no clear evidence available for linking ARHGEF9 to apnoea from literature.
ARHGEF9 is associated with developmental and epileptic encephalopathy 8 in OMIM (MIM #300607) and G2P (with "strong" confidence category). However, there is no reference to apnoea in these records.Created: 3 Jan 2023, 4:24 p.m. | Last Modified: 3 Jan 2023, 4:25 p.m.
Panel Version: 0.78
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Developmental and epileptic encephalopathy 8, OMIM:300607
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: ARHGEF9 were changed from to Developmental and epileptic encephalopathy 8, OMIM:300607
Mode of inheritance for gene: ARHGEF9 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
gene: ARHGEF9 was added gene: ARHGEF9 was added to Reccurent episodic apnoea. Sources: Expert list Mode of inheritance for gene: ARHGEF9 was set to