Intellectual disability syndromic and non-syndromic
Gene: ALG8

ALG8 (ALG8, alpha-1,3-glucosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000159063
EnsemblGeneIds (GRCh37): ENSG00000159063
OMIM: 608103, Gene2Phenotype
ALG8 is in 13 panels

2 reviews

Rylee Peters (Victorian Clinical Genetics Services)

Green List (high evidence)

Cohort of seven individuals with ALG8-CDG from six families with nine novel variants.

ALG8 missense and PTC variants identified in this cohort are localised either within predicted transmembrane domains or within the cytoplasmic loops between TMDs. A splice acceptor variant (c.674–2G>A) was identified in two patients, and a partial gene deletion of the ALG8 Ex3-13 was identified in one patient.

Features of this cohort include: dysmorphic features (7/7), neurological abnormalities (7/7), ID/developmental delay (7/7), neurodevelopmental disorders including autism spectrum disorder (5/7), hypotonia (6/7), anomalies of the skeletal system (7/7), muscular problems including muscle weakness (4/7), ataxia or gait problems (7/7), seizures (6/7).

Hepatic involvement consisted of hypertransaminasemia (5/7), abnormal coagulation profile (6/7), and hypoalbuminemia (3/7). Endocrinologic issues not previously reported included low IGF-BP3 (1/7) and transient hyperinsulinemia with episodes of hypoglycemia (1/7).
Created: 27 Dec 2023, 12:38 a.m. | Last Modified: 27 Dec 2023, 12:38 a.m.

Panel Version: 0.5653

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Ih, MIM# 608104

Publications

35716054

Created: 27 Dec 2023, 12:38 a.m.
Last Modified: 27 Dec 2023, 12:38 a.m.
Panel version: 0.5653

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Review of 15 reported individuals in PMID: 26066342: multiple prenatal abnormalities were present in 6/12 patients. In 13/15, there were symptoms at birth, 9/15 died within 12 months. Birth weight was appropriate in 11/12, only one was small for gestational age. Prematurity was reported in 7/12. Hydrops fetalis was noticed in 3, edemas in 11/13; gastrointestinal symptoms in 9/14; structural brain pathology, psychomental retardation, seizures, ataxia in 12/13, muscle hypotonia in 13/14. Common dysmorphic signs were: low set ears, macroglossia, hypertelorism, pes equinovarus, campto- and brachydactyly (13/15). In 10/11, there was coagulopathy, in 8/11 elevated transaminases; thrombocytopenia was present in 9/9. Eye involvement was reported in 9/14. CDG typical skin involvement was reported in 8/13.
Created: 25 Nov 2020, 7:22 a.m. | Last Modified: 25 Nov 2020, 7:22 a.m.

Panel Version: 0.3211

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Ih, MIM# 608104

Publications

26066342

Created: 25 Nov 2020, 7:22 a.m.
Last Modified: 25 Nov 2020, 7:22 a.m.
Panel version: 0.3211

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Genetic Health Queensland

Phenotypes

Congenital disorder of glycosylation, type Ih, MIM# 608104

OMIM

608103

Clinvar variants

Variants in ALG8

Penetrance

None

Publications

Panels with this gene