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Intellectual disability syndromic and non-syndromic

Gene: GPHN

Amber List (moderate 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)

I don't know

Only two families reported with bi-allelic variants. Also note reports of mono-allelic deletions associated with ID/autism/SZ.
Created: 6 Feb 2020, 8:53 p.m. | Last Modified: 6 Feb 2020, 8:53 p.m.
Panel Version: 0.2002
Severe ID is part of the phenotype.
Created: 4 Dec 2019, 7:30 p.m. | Last Modified: 4 Dec 2019, 7:30 p.m.
Panel Version: 0.322

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Molybdenum cofactor deficiency C, MIM#615501; intellectual disability

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genetic Health Queensland
Phenotypes
  • Molybdenum cofactor deficiency C, MIM#615501
Tags
SV/CNV
OMIM
603930
Clinvar variants
Variants in GPHN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Feb 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GPHN were set to

6 Feb 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gphn has been classified as Amber List (Moderate Evidence).

6 Feb 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: GPHN.

4 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gphn has been classified as Green List (High Evidence).

4 Dec 2019, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Dec 2019, Gel status: 3

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

22 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 Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GPHN was set to Unknown