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.

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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

SOURCES: ORPHANET OMIM

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


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

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

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

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

Glycine encephalopathy (sequence analysis of GCSH gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the GCSH gene.

More info about this panel

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

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

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

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

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

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

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

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

GCSH Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht

This panel specifically test the GCSH gene.

More info about this panel

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

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

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

Glycine encephalopathy Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the GCSH gene.

More info about this panel

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

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

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

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

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

Single gene testing GCSH Panel

Germany.

By CeGaT GmbH

This panel specifically test the GCSH gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

GCSH Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GCSH gene.

More info about this panel

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

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

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

Isolated nonketotic hyperglycinemia Panel

Spain.

By Bioarray

This panel specifically test the GCSH gene.

More info about this panel

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

Glycine Encephalopathy , Sequencing GCSH Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the GCSH gene.

More info about this panel

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

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


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