This Panel is marked as Retired
Epileptic encephalopathy
Gene: ALG11
ALG11 (ALG11, alpha-1,2-mannosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000253710
EnsemblGeneIds (GRCh37): ENSG00000253710
OMIM: 613666, Gene2Phenotype
ALG11 is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000253710
EnsemblGeneIds (GRCh37): ENSG00000253710
OMIM: 613666, Gene2Phenotype
ALG11 is in 8 panels
1 review
Arianna Tucci (Genomics England Curator)
Can present with epileptic encephalopathyCreated: 27 Sep 2017, 1:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type Ip 613661
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Other
- Phenotypes
-
- Congenital disorder of glycosylation, type Ip 613661
- OMIM
- 613666
- Clinvar variants
- Variants in ALG11
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
27 Sep 2017, Gel status: 4
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
27 Sep 2017, Gel status: 4
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
27 Sep 2017, Gel status: 0
Created
Arianna Tucci (Genomics England Curator)ALG11 was created by arianna
27 Sep 2017, Gel status: 0
Added New Source
Arianna Tucci (Genomics England Curator)ALG11 was added to Epileptic encephalopathypanel. Sources: Other