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  3. ALG3
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Optic neuropathy

Gene: ALG3

Red List (low evidence)
ALG3 (ALG3, alpha-1,3- mannosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000214160
EnsemblGeneIds (GRCh37): ENSG00000214160
OMIM: 608750, Gene2Phenotype
ALG3 is in 11 panels

1 review

Tom Cullup (Great Ormond Street Hospital)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id, 601110

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

Created: 19 Mar 2019, 3:33 p.m.

Panel version: 1.28

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
Phenotypes
  • CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id, 601110
OMIM
608750
Clinvar variants
Variants in ALG3
Penetrance
None
Panels with this gene

History Filter Activity

19 Mar 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ALG3 were changed from to CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id, 601110

19 Mar 2019, Gel status: 1

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: ALG3 was changed from to BIALLELIC, autosomal or pseudoautosomal

19 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: ALG3 was added gene: ALG3 was added to Optic neuropathy. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ALG3 was set to