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  2. Recurrent episodic apnoea
  3. GPHN
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Recurrent episodic apnoea

Gene: GPHN

Red List (low evidence)
GPHN (gephyrin)
EnsemblGeneIds (GRCh38): ENSG00000171723
EnsemblGeneIds (GRCh37): ENSG00000171723
OMIM: 603930, Gene2Phenotype
GPHN is in 6 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 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

Created: 3 Jan 2023, 4:10 p.m.
Last Modified: 3 Jan 2023, 4:10 p.m.
Panel version: 0.76

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
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Molybdenum cofactor deficiency C, OMIM:615501
OMIM
603930
Clinvar variants
Variants in GPHN
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: GPHN were changed from to Molybdenum cofactor deficiency C, OMIM:615501

3 Jan 2023, Gel status: 1

Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene: GPHN was changed from to BIALLELIC, autosomal or pseudoautosomal

21 Dec 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

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