Congenital Disorders of Glycosylation

Gene: ALG14

Green List (high evidence)

ALG14 (ALG14, UDP-N-acetylglucosaminyltransferase subunit)
EnsemblGeneIds (GRCh38): ENSG00000172339
EnsemblGeneIds (GRCh37): ENSG00000172339
OMIM: 612866, Gene2Phenotype
ALG14 is in 9 panels

2 reviews

Sarah Donoghue (Royal Children's Hospital)

Green List (high evidence)

Cerebral atrophy may be progressive
Created: 26 Aug 2020, 11:49 a.m. | Last Modified: 26 Aug 2020, 11:49 a.m.
Panel Version: 0.151

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability; epilepsy; dysmorphic features; myasthenia; hypotonia; cerebral atrophy; contractures; congenital myasthenia

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Five families reported altogether. Although OMIM has assigned 3 disease entities, it is uncertain whether these are distinct, or represent a spectrum of severity for a CDG.
Created: 6 Oct 2020, 9:26 p.m. | Last Modified: 6 Oct 2020, 9:26 p.m.
Panel Version: 0.169
5 individuals from unrelated families described in the literature: one with myasthenic syndrome, no report of ID; second with predominantly ID phenotype; and three more with a neurodegenerative phenotype. ALG14 is part of the UDP-GlcNAc transferase, which catalyzes a key step in endoplasmic reticulum N-linked glycosylation
Created: 23 Nov 2019, 3:47 a.m. | Last Modified: 22 Jul 2020, 8:27 a.m.
Panel Version: 0.138

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031; Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036; Disorder of N-glycosylation

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Myasthenic syndrome, congenital, 15, without tubular aggregates 616227
  • Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031
  • Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036
  • Disorder of N-glycosylation
OMIM
612866
Clinvar variants
Variants in ALG14
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ALG14 were changed from Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031; Disorder of N-glycosylation to Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031; Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036; Disorder of N-glycosylation

22 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ALG14 were changed from Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Intellectual disability; Disorder of N-glycosylation to Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031; Disorder of N-glycosylation

22 Jul 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ALG14 were changed from Myasthenic syndrome, congenital, 15, without tubular aggregates 616227 to Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Intellectual disability; Disorder of N-glycosylation

12 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: alg14 has been classified as Green List (High Evidence).

12 Feb 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ALG14 were changed from to Myasthenic syndrome, congenital, 15, without tubular aggregates 616227

12 Feb 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ALG14 were set to

12 Feb 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ALG14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ALG14 was added gene: ALG14 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ALG14 was set to Unknown