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Intellectual disability syndromic and non-syndromic

Gene: ALG12

Green List (high evidence)

ALG12 (ALG12, alpha-1,6-mannosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000182858
EnsemblGeneIds (GRCh37): ENSG00000182858
OMIM: 607144, Gene2Phenotype
ALG12 is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Usually type I CDG pattern. Principal phenotypic features include Dysmorphic features; Psychomotor delay; Seizures; Ocular abnormalities; Sensorineural hearing loss; Hypotonia; Failure to thrive/short stature; Cardiac Abnormalities; Genitourinary abnormalities; Recurrent infections; Hypogammaglobulinaemia; Coagulation abnormalities; Abnormal liver enzymes; Lipid abnormalities; Abnormal transferrin IEF, Abnormal brain imaging; Microcephaly; Skeletal malformations.
Created: 26 Aug 2020, 10:41 p.m. | Last Modified: 26 Aug 2020, 10:41 p.m.
Panel Version: 0.2878

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Ig, MIM# 607143

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Congenital disorder of glycosylation, type Ig, MIM# 607143
OMIM
607144
Clinvar variants
Variants in ALG12
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: alg12 has been classified as Green List (High Evidence).

26 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ALG12 were changed from to Congenital disorder of glycosylation, type Ig, MIM# 607143

26 Aug 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ALG12 were set to

26 Aug 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ALG12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ALG12 was added gene: ALG12 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ALG12 was set to Unknown