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  3. ALG1
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Hydrops fetalis

Gene: ALG1

Amber List (moderate evidence)
ALG1 (ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000033011
EnsemblGeneIds (GRCh37): ENSG00000033011
OMIM: 605907, Gene2Phenotype
ALG1 is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Comment on list classification: CDGs are a recognised cause of nonimmune fetal hydrops; however, single report of ALG1 and hydrops identified.
Created: 30 Dec 2019, 3:35 a.m. | Last Modified: 30 Dec 2019, 3:35 a.m.
Panel Version: 0.41
Hydrops fetalis is part of the phenotype.
Sources: Expert list
Created: 30 Dec 2019, 1:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Ik, MIM#608540

Created: 30 Dec 2019, 1:44 a.m.

Panel version: 0.145

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Congenital disorder of glycosylation, type Ik, MIM#608540
OMIM
605907
Clinvar variants
Variants in ALG1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: alg1 has been classified as Amber List (Moderate Evidence).

30 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: alg1 has been classified as Green List (High Evidence).

30 Dec 2019, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ALG1 were set to

30 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: alg1 has been classified as Green List (High Evidence).

30 Dec 2019, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ALG1 was added gene: ALG1 was added to Hydrops fetalis_VCGS. Sources: Expert list Mode of inheritance for gene: ALG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG1 were set to Congenital disorder of glycosylation, type Ik, MIM#608540 Review for gene: ALG1 was set to GREEN