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  3. GPHN
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Neurotransmitter Defects

Gene: GPHN

Red List (low evidence)
GPHN (gephyrin)
EnsemblGeneIds (GRCh38): ENSG00000171723
EnsemblGeneIds (GRCh37): ENSG00000171723
OMIM: 603930, Gene2Phenotype
GPHN is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Indirect link to neurotransmitter defects: gephryn interacts with glycine and GABA receptors.
Created: 23 Aug 2020, 8:26 a.m. | Last Modified: 23 Aug 2020, 8:44 a.m.
Panel Version: 0.53

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Molybdenum cofactor deficiency C, MIM# 615501

Created: 23 Aug 2020, 8:26 a.m.
Last Modified: 23 Aug 2020, 8:44 a.m.
Panel version: 0.50

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Molybdenum cofactor deficiency C, MIM# 615501
OMIM
603930
Clinvar variants
Variants in GPHN
Penetrance
None
Panels with this gene

History Filter Activity

23 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gphn has been classified as Red List (Low Evidence).

23 Aug 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GPHN were changed from to Molybdenum cofactor deficiency C, MIM# 615501

23 Aug 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

23 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gphn has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GPHN was added gene: GPHN was added to Neurotransmitter Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GPHN was set to Unknown