Callosome
Gene: GCSHEnsemblGeneIds (GRCh38): ENSG00000140905
EnsemblGeneIds (GRCh37): ENSG00000140905
OMIM: 238330, Gene2Phenotype
GCSH is in 9 panels
2 reviews
Ain Roesley (Victorian Clinical Genetics Services)
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 exon4-5 dup
**2x with the severe fatal phenotype had thin corpus callousCreated: 6 Oct 2022, 3:24 a.m. | Last Modified: 6 Oct 2022, 3:24 a.m.
Panel Version: 0.480
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycine encephalopathy MIM#605899
Publications
Variants in this GENE are reported as part of current diagnostic practice
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Single case reported in 1990s.Created: 4 Dec 2019, 9:29 a.m. | Last Modified: 4 Dec 2019, 9:29 a.m.
Panel Version: 0.27
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycine encephalopathy, MIM#605899
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Victorian Clinical Genetics Services
- 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
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: GCSH were changed from Glycine encephalopathy, MIM#605899 to Multiple mitochondrial dysfunctions syndrome 7, MIM# 620423
Set publications
Ain Roesley (Victorian Clinical Genetics Services)Publications for gene: GCSH were set to 1671321; 36190515
Set publications
Ain Roesley (Victorian Clinical Genetics Services)Publications for gene: GCSH were set to 1671321
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: gcsh has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gcsh has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: GCSH were changed from to Glycine encephalopathy, MIM#605899
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: GCSH were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: GCSH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gcsh has been classified as Red List (Low Evidence).
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 Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GCSH was set to Unknown