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  3. ALG12
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Congenital diaphragmatic hernia

Gene: ALG12

Amber List (moderate 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)

I don't know

Two individuals reported as part of a CDH cohort.
Sources: Literature
Created: 21 Jun 2021, 8:13 a.m. | Last Modified: 21 Jun 2021, 8:38 a.m.
Panel Version: 0.94

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 21 Jun 2021, 8:13 a.m.
Last Modified: 21 Jun 2021, 8:38 a.m.
Panel version: 0.94

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
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

21 Jun 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: alg12 has been classified as Amber List (Moderate Evidence).

21 Jun 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: alg12 has been classified as Red List (Low Evidence).

21 Jun 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ALG12 was added gene: ALG12 was added to Congenital diaphragmatic hernia. Sources: Literature Mode of inheritance for gene: ALG12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG12 were set to 33461977 Phenotypes for gene: ALG12 were set to Congenital disorder of glycosylation, type Ig, MIM# 607143 Review for gene: ALG12 was set to RED