GPHN

gephyrin
OMIM: 603930, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green GPHN in Mendeliome Version 1.3499	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes sulfite oxidase deficiency due to molybdenum cofactor deficiency type C MONDO:0014212 complex neurodevelopmental disorder MONDO:0100038 Tags SV/CNV
Red GPHN in Neurotransmitter Defects Level 2: Neurology and neurodevelopmental disorders Version 1.7 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Molybdenum cofactor deficiency C, MIM# 615501
Green GPHN in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.263 Component of the following Super Panels: Progressive Neurological Conditions	3 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Molybdenum cofactor deficiency C, MIM# 615501 Epilepsy Autism Intellectual disability Tags SV/CNV
Green GPHN in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.398	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Molybdenum cofactor deficiency C, MIM#615501 Tags SV/CNV
Green GPHN in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Molybdenum cofactor deficiency C, 615501 (3)
Red GPHN in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Hyperekplexia
Green GPHN in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 1.57 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Molybdenum cofactor deficiency C MIM#615501 Disorders of molybdenum cofactor metabolism
Green GPHN in Metal Metabolism Disorders Level 2: Metabolic disorders Version 0.49 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of molybdenum cofactor metabolism sulfite oxidase deficiency due to molybdenum cofactor deficiency type C MONDO:0014212
Green GPHN in Prepair 1000+ Level 2: Screening Version 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Molybdenum cofactor deficiency C, 615501 (3)
Red GPHN in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hyperekplexia