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  3. ARHGEF9
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Recurrent episodic apnoea

Gene: ARHGEF9

Red List (low evidence)
ARHGEF9 (Cdc42 guanine nucleotide exchange factor 9)
EnsemblGeneIds (GRCh38): ENSG00000131089
EnsemblGeneIds (GRCh37): ENSG00000131089
OMIM: 300429, Gene2Phenotype
ARHGEF9 is in 3 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Red List (low evidence)

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
Created: 1 Feb 2023, 2:43 p.m.
Last Modified: 1 Feb 2023, 2:43 p.m.
Panel version: 0.91

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

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

Created: 3 Jan 2023, 4:24 p.m.
Last Modified: 3 Jan 2023, 4:25 p.m.
Panel version: 0.78

Eleanor Williams (Genomics England Curator)

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
Created: 21 Dec 2022, 2:49 p.m.
Last Modified: 21 Dec 2022, 2:49 p.m.
Panel version: 0.2

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
Phenotypes
  • Developmental and epileptic encephalopathy 8, OMIM:300607
OMIM
300429
Clinvar variants
Variants in ARHGEF9
Penetrance
None
Panels with this gene

History Filter Activity

3 Jan 2023, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: ARHGEF9 were changed from to Developmental and epileptic encephalopathy 8, OMIM:300607

3 Jan 2023, Gel status: 1

Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene: ARHGEF9 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females

21 Dec 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: ARHGEF9 was added gene: ARHGEF9 was added to Reccurent episodic apnoea. Sources: Expert list Mode of inheritance for gene: ARHGEF9 was set to