Congenital disorders of glycosylation
Gene: ALG13Comment on mode of inheritance: From OMIM and Gen2PhenCreated: 12 Aug 2019, 11:48 a.m. | Last Modified: 12 Aug 2019, 11:48 a.m.
Panel Version: 1.27
Comment when marking as ready: Associated with phenotype in OMIM and as a probable Developmental Disorder Gene / G2P. At least 1 variant reported.Created: 15 Dec 2016, 10:19 a.m.
Not all ALG13 mutant patients show defects in standard glycosylation disorder testing, but this does not rule out that glycosylation is the major cause for the pathogenic phenotype in all patients.Created: 9 Dec 2016, 12:19 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications
Mode of inheritance for gene: ALG13 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Promoted to V1 19th December 2016
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Publications for ALG13 were set to 27604308; 22492991; 25732998
ALG13 was added to Congenital disorders of glycosylationpanel. Source: UKGTN
ALG13 was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen
ALG13 was added to Congenital disorders of glycosylationpanel. Source: Literature
ALG13 was created by sleigh
ALG13 was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory