Intellectual disability update Jan 2018
Gene: GPHN

GPHN (gephyrin)
EnsemblGeneIds (GRCh38): ENSG00000171723
EnsemblGeneIds (GRCh37): ENSG00000171723
OMIM: 603930, Gene2Phenotype
GPHN is in 6 panels

1 review

Sarah Leigh (Genomics England Curator)

Associated with phenotype in OMIM. At least 2 variants reported in 2 consanguineous families. One variant (exon 2-3 deletion) was found in 3 affected infants who all 3 died (at day 12, 29, and 3, respectively). The second variant was reported in a neonate diagnosed with poor feeding, hypotonia, and intractable seizures. At age 2 years, she had spasticity and lack of psychomotor development. (PMID 22040219).

GPHN was reported as a gene linked to isolated ID and ID associated disorders (Vissers 2016 PMID 26503795) and as an ID candidate gene (Gilessen 2014 PMID 24896178).
Created: 5 Mar 2018, 4:25 p.m.

Created: 5 Mar 2018, 4:25 p.m.

Panel version: 0.338

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Radboud University Medical Center, Nijmegen

Phenotypes

Molybdenum cofactor deficiency C 615501

Tags

treatable deletions Autism Spectrum Disorder

OMIM

603930

Clinvar variants

Variants in GPHN

Penetrance

None

Publications

11095995

Panels with this gene