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BabyScreen+ newborn screening

Gene: GPHN

Red List (low evidence)

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

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History Filter Activity

18 Sep 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GPHN was added gene: GPHN was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: GPHN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GPHN were set to Hyperekplexia