GCSH gene related symptoms and diseases
All the information presented here about the GCSH gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to GCSH gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Poor suck | Uncommon - Between 30% and 50% cases |
| Attention deficit hyperactivity disorder | Uncommon - Between 30% and 50% cases |
| Severe global developmental delay | Uncommon - Between 30% and 50% cases |
| Lethargy | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with GCSH gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Neutropenia
- Coma
- Chorea
- Aciduria
- Intellectual disability, profound
- Hypsarrhythmia
- Choreoathetosis
- Limb ataxia
And 49 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to GCSH gene
Here you will find a list of rare diseases related to the GCSH. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
NEONATAL GLYCINE ENCEPHALOPATHY
Alternate names
NEONATAL GLYCINE ENCEPHALOPATHY Is also known as classic glycine encephalopathy, neonatal nkh, nkh, neonatal non-ketotic hyperglycinemia, hyperglycinemia, nonketotic
Description
Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay.
Most common symptoms of NEONATAL GLYCINE ENCEPHALOPATHY
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about NEONATAL GLYCINE ENCEPHALOPATHY
INFANTILE GLYCINE ENCEPHALOPATHY
Alternate names
INFANTILE GLYCINE ENCEPHALOPATHY Is also known as infantile non-ketotic hyperglycinemia, infantile nkh
Description
Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE; see this term), characterized by early hypotonia, developmental delay and seizures.
More info about INFANTILE GLYCINE ENCEPHALOPATHY
SOURCES: ORPHANET
ATYPICAL GLYCINE ENCEPHALOPATHY
Alternate names
ATYPICAL GLYCINE ENCEPHALOPATHY Is also known as atypical non-ketotic hyperglycinemia, atypical nka
Description
Atypical glycine encephalopathy is a rare form of glycine encephalopathy (GE; see this term) presenting disease onset or clinical manifestations that differ from neonatal or infantile GE.
More info about ATYPICAL GLYCINE ENCEPHALOPATHY
SOURCES: ORPHANET
Search interest in GCSH
Potential gene panels for GCSH gene
MitoMet®Plus aCGH Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panel United States.
GCSH-Related Glycine Encephalopathy, Nonketotic Hyperglycinemia - Del/Dup Analysis Panel
United States.
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
This panel specifically test the GCSH gene.
More info about this panel United States.
GCSH-Related Glycine Encephalopathy, Nonketotic Hyperglycinemia - Sequencing Panel
United States.
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
This panel specifically test the GCSH gene.
More info about this panel United States.
GCSH. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the GCSH gene.
More info about this panel Spain.
Glycine encephalopathy (sequence analysis of GCSH gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the GCSH gene.
More info about this panel Portugal.
Epileptic encephalopathy (NGS panel for 67 genes) Panel
Portugal.
By CGC Genetics Epileptic encephalopathy (NGS panel for 67 genes) that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL3 SLC2A1 SLC9A6 SPTAN1 CDKL5
More info about this panel Portugal.
Nonketotic hyperglycinemia/glycine encephalopathy (NGS panel of 3 genes) Panel
Portugal.
By CGC Genetics Nonketotic hyperglycinemia/glycine encephalopathy (NGS panel of 3 genes) that also includes the following genes: GCSH GLDC AMT
More info about this panel Portugal.
Nonketotic hyperglycinemia/glycine encephalopathy (NGS panel of 3 genes) Panel
Portugal.
By CGC Genetics Nonketotic hyperglycinemia/glycine encephalopathy (NGS panel of 3 genes) that also includes the following genes: GCSH GLDC AMT
More info about this panel Portugal.
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Epilepsy and Seizure Plus Sequencing Panel with CNV Detection that also includes the following genes: RORB RYR3 SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SGCE
More info about this panel United States.
Glycine Encephalopathy Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Glycine Encephalopathy Sequencing Panel with CNV Detection that also includes the following genes: GCSH GLDC AMT
More info about this panel United States.
Glycine Encephalopathy via GCSH Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the GCSH gene.
More info about this panel United States.
Mental retardation - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panel Germany.
Glycine cleavage system H-protein deficiency (GCSH) Panel
Netherlands.
By VU University Medical Center Metabolic Unit, PX 1X 009
This panel specifically test the GCSH gene.
More info about this panel Netherlands.
GCSH Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the GCSH gene.
More info about this panel Netherlands.
Metabolic disease with epilepsy panel Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht Metabolic disease with epilepsy panel that also includes the following genes: SLC2A1 GPHN DNAJC5 TPP1 CLN3 CLN5 CLN6 CLN8 CPT2 CTSD
More info about this panel Netherlands.
Glycine encephalopathy / non-ketonic hyperglycinemia panel Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht Glycine encephalopathy / non-ketonic hyperglycinemia panel that also includes the following genes: GCSH GLDC AMT
More info about this panel Netherlands.
Comprehensive mitochondrial disorders panel Panel
Germany.
By Centogene AG - the Rare Disease Company Comprehensive mitochondrial disorders panel that also includes the following genes: RNASEL BCS1L MRPL3 SARDH SCO1 SCO2 SCP2 SDHA SDHB SDHC
More info about this panel Germany.
Glycine encephalopathy Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the GCSH gene.
More info about this panel Germany.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
Epileptic Encephalopathy Panel Panel
Germany.
By CeGaT GmbH Epileptic Encephalopathy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 ST3GAL5 SLC2A1 SLC35A2 SLC9A6 SPTAN1
More info about this panel Germany.
Metabolic Epilepsy Panel Panel
Germany.
By CeGaT GmbH Metabolic Epilepsy Panel that also includes the following genes: SLC25A15 BTD SUOX GPHN ACY1 L2HGDH GNE ADSL DPYD PNPO
More info about this panel Germany.
Nuclear encoded Mitochondriopathies Panel Panel
Germany.
By CeGaT GmbH Nuclear encoded Mitochondriopathies Panel that also includes the following genes: RMRP BCS1L MRPL3 SACS SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panel Germany.
Glycine Encephalopathy Panel Panel
Germany.
By CeGaT GmbH Glycine Encephalopathy Panel that also includes the following genes: GCSH GLDC AMT
More info about this panel Germany.
Single gene testing GCSH Panel
Germany.
By CeGaT GmbH
This panel specifically test the GCSH gene.
More info about this panel Germany.
Brain malformations Panel
Estonia.
By Asper Biogene Asper Biogene LLC Brain malformations that also includes the following genes: STIL SLC12A6 SNAP29 TCF4 CEP41 TUBB2A TUBG1 VLDLR VRK1 ACTB
More info about this panel Estonia.
GCSH-Related Glycine Encephalopathy Panel
Germany.
By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics
This panel specifically test the GCSH gene.
More info about this panel Germany.
Invitae Glycine Encephalopathy Panel Panel
United States.
By Invitae Invitae Glycine Encephalopathy Panel that also includes the following genes: SLC6A9 NFU1 LIAS GCSH GLDC AMT
More info about this panel United States.
Invitae Neurotransmitter Disorders Panel Panel
United States.
By Invitae Invitae Neurotransmitter Disorders Panel that also includes the following genes: SLC6A3 SLC6A5 SPR TH ARHGEF9 GPHN PSAT1 SLC25A22 ABAT DBH
More info about this panel United States.
Invitae Elevated Glycine Panel Panel
United States.
By Invitae Invitae Elevated Glycine Panel that also includes the following genes: SLC6A9 NFU1 LIAS GCSH GLDC AMT
More info about this panel United States.
Invitae Treatable Neurometabolic Disorders Panel Panel
United States.
By Invitae Invitae Treatable Neurometabolic Disorders Panel that also includes the following genes: SGSH SLC25A13 SLC25A15 SLC2A1 SLC6A8 BTD SPR TAT TH NPC2
More info about this panel United States.
Epileptic encephalopathies Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Epileptic encephalopathies that also includes the following genes: SCN1A SCN2A SCN8A ST3GAL3 SLC2A1 SPTAN1 CDKL5 STXBP1 TREX1 WWOX
More info about this panel Spain.
Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A
More info about this panel United States.
Lysosomal Disorders NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Lysosomal Disorders NGS Panel that also includes the following genes: SGSH SLC17A5 SLC25A15 SMPD1 BTD SUOX TCF4 MCOLN1 NPC2 ADAMTSL2
More info about this panel United States.
Nuclear-Mito NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7
More info about this panel United States.
GCSH Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GCSH gene.
More info about this panel United States.
Comprehensive Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B
More info about this panel United States.
Comprehensive Metabolism Panel Panel
Finland.
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panel Finland.
Nonketotic Hyperglycinemia / Glycine Encephalopathy Panel Panel
Finland.
By Blueprint Genetics Nonketotic Hyperglycinemia / Glycine Encephalopathy Panel that also includes the following genes: SLC6A9 NFU1 LIAS GLRX5 BOLA3 LIPT1 GCSH GLDC AMT
More info about this panel Finland.
Isolated nonketotic hyperglycinemia Panel
Spain.
By Bioarray
This panel specifically test the GCSH gene.
More info about this panel Spain.
NONKETOTIC HYPERGLYCINEMIA (INFANTILE GLYCINE ENCEPHALOPATHY) Panel
Spain.
By Laboratorio de Genetica Clinica SL NONKETOTIC HYPERGLYCINEMIA (INFANTILE GLYCINE ENCEPHALOPATHY) that also includes the following genes: GCSH GLDC AMT
More info about this panel Spain.
Glycine Encephalopathy , Sequencing GCSH Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the GCSH gene.
More info about this panel Spain.
Glycine Encephalopathy , Panel Massive Sequencing (NGS) GLDC, AMT, GCSH Genes Panel
Spain.
By Reference Laboratory Genetics Glycine Encephalopathy , Panel Massive Sequencing (NGS) GLDC, AMT, GCSH Genes that also includes the following genes: GCSH GLDC AMT
More info about this panel Spain.
Glycine Encephalopathy: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Glycine Encephalopathy: gene sequencing panel that also includes the following genes: GCSH GLDC AMT
More info about this panel Canada.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like THSD4 CYP2B6 ALX1 CSMD2