GCSH

glycine cleavage system protein H
OMIM: 238330, ClinGen, DECIPHER

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green GCSH in Mendeliome Version 2.0	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Multiple mitochondrial dysfunctions syndrome 7, MIM# 620423
Green GCSH in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Victorian Clinical Genetics Services Phenotypes Multiple mitochondrial dysfunctions syndrome 7, MIM# 620423
Green GCSH in Mitochondrial disease Level 2: Metabolic disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Multiple mitochondrial dysfunctions syndrome 7, MIM# 620423
Amber GCSH in Callosome Level 2: Neurology and neurodevelopmental disorders Version 1.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Multiple mitochondrial dysfunctions syndrome 7, MIM# 620423
Green GCSH in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Multiple mitochondrial dysfunctions syndrome 7, MIM# 620423
Red GCSH in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Glycine encephalopathy
Red GCSH in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Glycine encephalopathy MIM#605899 Disorders of serine, glycine or glycerate metabolism
Green GCSH in Aminoacidopathy Level 2: Metabolic disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes glycine encephalopathy MONDO:0011612
Red GCSH in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Glycine encephalopathy