Congenital Disorders of Glycosylation
Gene: ALG13
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Congenital disorder of glycosylation, type Is (MIM# 300884)
Publications
Same variant described in
PMID: 23033978
PMID: 23934111
PMID: 24781210
PMID: 24896178
PMID: 25732998 - female with no reported glycosylation abnormalities
PMID: 26138355
PMID: 26482601
PMID: 28940310
PMID: 32238909Created: 30 Sep 2020, 6 a.m. | Last Modified: 30 Sep 2020, 6 a.m.
Panel Version: 0.164
Phenotypes
Microcephaly; infantile spasms; developmental regression; hypotonia; epileptic encephalopathy; intellectual disability
Publications
Amber rating
PMID: 22492991;
- 1x de novo p.(Lys94Glu) and enzymatic studies showed N-glycosylation defect
PMID: 28887793;
- 1x de novo p.(Asn107Ser) in a male (previously only girls have been reported with this variant). Authors described the proband to have 'near normal' glycosylation as transferrin IEF was normal but mass spectrometry lack of one glycan (~6–8% ref: <4%).
PMID: 26138355
- 1x female with p.(Asn107Ser) and transferrin showed normal levels but no mass spec was doneCreated: 14 Jul 2020, 11:49 p.m. | Last Modified: 14 Jul 2020, 11:49 p.m.
Panel Version: 0.57
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Congenital disorder of glycosylation, type Is (MIM# 300884)
Publications
Publications for gene: ALG13 were set to 22492991; 28887793; 26138355
Gene: alg13 has been classified as Green List (High Evidence).
Gene: alg13 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: ALG13 were changed from to Congenital disorder of glycosylation, type Is (MIM# 300884)
Publications for gene: ALG13 were set to 22492991; 28887793; 26138355
Publications for gene: ALG13 were set to
Mode of inheritance for gene: ALG13 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Gene: alg13 has been classified as Amber List (Moderate Evidence).
gene: ALG13 was added gene: ALG13 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ALG13 was set to Unknown