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  2. Intellectual disability syndromic and non-syndromic
  3. GCSH
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Intellectual disability syndromic and non-syndromic

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

2 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
Created: 6 Oct 2022, 3:26 a.m. | Last Modified: 6 Oct 2022, 3:26 a.m.
Panel Version: 0.4965

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, 3:26 a.m.
Last Modified: 6 Oct 2022, 3:26 a.m.
Panel version: 0.4965

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single report only.
Created: 4 Dec 2019, 9:27 a.m. | Last Modified: 4 Dec 2019, 9:27 a.m.
Panel Version: 0.272

Phenotypes
Glycine encephalopathy, MIM#605899

Publications

Created: 4 Dec 2019, 9:27 a.m.
Last Modified: 4 Dec 2019, 9:27 a.m.
Panel version: 0.272

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 7, MIM# 620423
OMIM
238330
Clinvar variants
Variants in GCSH
Penetrance
None
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

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: GCSH were changed from Glycine encephalopathy, MIM#605899 to Glycine encephalopathy MIM#605899; neurodevelopmental disorder MONDO#0700092, GCHS-related

6 Oct 2022, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: GCSH were set to 1671321

6 Oct 2022, Gel status: 3

Set mode of inheritance

Ain Roesley (Victorian Clinical Genetics Services)

Mode of inheritance for gene: GCSH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

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).

4 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Dec 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GCSH were changed from Glycine encephalopathy, MIM#605899 to Glycine encephalopathy, MIM#605899

4 Dec 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GCSH were changed from to Glycine encephalopathy, MIM#605899

4 Dec 2019, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GCSH were set to

4 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GCSH was added gene: GCSH was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GCSH was set to Unknown