Congenital Disorders of Glycosylation
Gene: ALG12EnsemblGeneIds (GRCh38): ENSG00000182858
EnsemblGeneIds (GRCh37): ENSG00000182858
OMIM: 607144, Gene2Phenotype
ALG12 is in 11 panels
1 review
Sarah Donoghue (Royal Children's Hospital)
Usually type I CDG patternCreated: 26 Aug 2020, 11:41 a.m. | Last Modified: 26 Aug 2020, 11:41 a.m.
Panel Version: 0.151
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
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
Publications
- PMID: 31481313
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Congenital disorder of glycosylation, type Ig 607143
- OMIM
- 607144
- Clinvar variants
- Variants in ALG12
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Congenital Disorders of Glycosylation
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
- Congenital diaphragmatic hernia
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: alg12 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ALG12 were changed from to Congenital disorder of glycosylation, type Ig 607143
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ALG12 were set to
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
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 Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ALG12 was set to Unknown