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  3. GCSH
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Genetic Epilepsy

Gene: GCSH

Green List (high evidence)
GCSH (glycine cleavage system protein H)
EnsemblGeneIds (GRCh38): ENSG00000140905
EnsemblGeneIds (GRCh37): ENSG00000140905
OMIM: 238330, Gene2Phenotype
GCSH is in 9 panels

3 reviews

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

6x individuals, 3x with severe fatal glycine encephalopathy and 3x attenuated phenotype of developmental delay, behavioural problems, limited epilepsy, and variable movement problems

Severe fatal variants: 2x start loss and 1x missense
Attenuated variants : 2x missense and 1x exon 4-5 dup
Sources: Literature
Created: 6 Oct 2022, 3:30 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycine encephalopathy MIM#605899; neurodevelopmental disorder MONDO#0700092, GCHS-related

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 6 Oct 2022, 3:30 a.m.

Panel version: 0.1676

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Single case reported
Sources: Literature
Created: 8 Feb 2021, 3:49 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycine encephalopathy MIM#605899; Disorders of serine, glycine or glycerate metabolism

Publications

Created: 8 Feb 2021, 3:49 a.m.

Panel version: Imported from Mendeliome panel version Imported from Miscellaneous Metabolic Disorders panel version 0.318

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single individual reported in 1991 with a complex rearrangement in this gene
Created: 26 Jan 2020, 9:59 a.m. | Last Modified: 26 Jan 2020, 9:59 a.m.
Panel Version: 0.968

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycine encephalopathy, MIM# 605899

Publications

Created: 26 Jan 2020, 9:59 a.m.
Last Modified: 26 Jan 2020, 9:59 a.m.
Panel version: Imported from Mendeliome panel version 0.968

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 7, MIM# 620423
OMIM
238330
Clinvar variants
Variants in GCSH
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Jun 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GCSH were changed from Glycine encephalopathy MIM#605899; neurodevelopmental disorder MONDO#0700092, GCHS-related to Multiple mitochondrial dysfunctions syndrome 7, MIM# 620423

6 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: gcsh has been classified as Green List (High Evidence).

6 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: gcsh has been classified as Green List (High Evidence).

6 Oct 2022, Gel status: 1

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: gcsh has been classified as Red List (Low Evidence).

6 Oct 2022, Gel status: 1

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: GCSH was added gene: GCSH was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: GCSH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GCSH were set to 36190515 Phenotypes for gene: GCSH were set to Glycine encephalopathy MIM#605899; neurodevelopmental disorder MONDO#0700092, GCHS-related Penetrance for gene: GCSH were set to Complete Review for gene: GCSH was set to GREEN gene: GCSH was marked as current diagnostic