Recurrent episodic apnoea
Gene: GPHN
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 linking GPHN to apnoea is available.
GPHN is associated with molybdenum cofactor deficiency in both OMIM (#615501) and G2P (with "limited" confidence category). However, there is no reference to apnoea in these records.Created: 3 Jan 2023, 4:10 p.m. | Last Modified: 3 Jan 2023, 4:10 p.m.
Panel Version: 0.76
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Molybdenum cofactor deficiency C, OMIM:615501
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: GPHN were changed from to Molybdenum cofactor deficiency C, OMIM:615501
Mode of inheritance for gene: GPHN was changed from to BIALLELIC, autosomal or pseudoautosomal
gene: GPHN was added gene: GPHN was added to Reccurent episodic apnoea. Sources: Expert list Mode of inheritance for gene: GPHN was set to