Congenital Disorders of Glycosylation
Gene: GET4
GET4 (golgi to ER traffic protein 4)
EnsemblGeneIds (GRCh38): ENSG00000239857
EnsemblGeneIds (GRCh37): ENSG00000239857
OMIM: 612056, Gene2Phenotype
GET4 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000239857
EnsemblGeneIds (GRCh37): ENSG00000239857
OMIM: 612056, Gene2Phenotype
GET4 is in 2 panels
1 review
Elena Savva (Victorian Clinical Genetics Services)
PMID: 32395830
- chet patient (missense x2), functionally shown to result in downregulation of three TRC proteins in patient cell lines.
- patient phenotype included ID, DD, seizures, dysmorphism and delayed bone age.
- functional studies on missense themselves not performed
Sources: LiteratureCreated: 2 Feb 2023, 3:12 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Congenital disorder of glycosylation,, type IIy MIM#620200
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- ?Congenital disorder of glycosylation,, type IIy MIM#620200
- OMIM
- 612056
- Clinvar variants
- Variants in GET4
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
2 Feb 2023, Gel status: 1
Entity classified by Genomics England curator
Elena Savva (Victorian Clinical Genetics Services)Gene: get4 has been classified as Red List (Low Evidence).
2 Feb 2023, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Elena Savva (Victorian Clinical Genetics Services)gene: GET4 was added gene: GET4 was added to Congenital Disorders of Glycosylation. Sources: Literature Mode of inheritance for gene: GET4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GET4 were set to 32395830 Phenotypes for gene: GET4 were set to ?Congenital disorder of glycosylation,, type IIy MIM#620200 Review for gene: GET4 was set to RED