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  3. ALG6
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Fetal anomalies

Gene: ALG6

Green List (high evidence)
ALG6 (ALG6, alpha-1,3-glucosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000088035
EnsemblGeneIds (GRCh37): ENSG00000088035
OMIM: 604566, Gene2Phenotype
ALG6 is in 13 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Over 100 affected individuals reported. Mostly neurological features, though rare congenital anomalies such as missing phalanges reported.

PMID 27498540 summarises findings in 41 patients. Hypotonia and developmental delay were reported in all. Other common features include epilepsy, ataxia, proximal muscle weakness, and, in the majority of cases, failure to thrive. Nine patients developed intractable seizures. Coagulation anomalies were present in <50 % of cases, without spontaneous bleedings. Facial dysmorphism was rare, but seven patients showed missing phalanges and brachydactyly. Cyclic behavioral change, with autistic features and depressive episodes. Eleven children died before the age of 4 years due to protein losing enteropathy (PLE), sepsis, or seizures. The oldest patient was a 40 year-old. The most common pathogenic protein alterations were p.A333V and p.I299Del, without any clear genotype-phenotype correlation.
Created: 24 Nov 2020, 10:23 p.m. | Last Modified: 3 Nov 2021, 8:42 p.m.
Panel Version: 0.107

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Ic (MIM#603147)

Publications

Created: 24 Nov 2020, 10:23 p.m.
Last Modified: 3 Nov 2021, 8:42 p.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.3202

Melanie Marty (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene/disease association for congenital disorder of glycosylation type Ic
Created: 23 Nov 2020, 9:31 p.m. | Last Modified: 23 Nov 2020, 9:31 p.m.
Panel Version: 0.185

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Ic (MIM#603147)

Publications

Created: 23 Nov 2020, 9:31 p.m.
Last Modified: 23 Nov 2020, 9:31 p.m.
Panel version: Imported from Congenital Disorders of Glycosylation panel version 0.185

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Congenital disorder of glycosylation, type Ic (MIM#603147)
OMIM
604566
Clinvar variants
Variants in ALG6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: alg6 has been classified as Green List (High Evidence).

3 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ALG6 were changed from ALG6-CDG to Congenital disorder of glycosylation, type Ic (MIM#603147)

3 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ALG6 were set to

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ALG6 was added gene: ALG6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: ALG6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG6 were set to ALG6-CDG