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Skeletal Dysplasia_Fetal

Gene: ALG3

Green List (high evidence)
ALG3 (ALG3, alpha-1,3- mannosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000214160
EnsemblGeneIds (GRCh37): ENSG00000214160
OMIM: 608750, Gene2Phenotype
ALG3 is in 13 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Antenatal presentation with IUGR and short long bones/limbs reported.
Sources: Expert list, Literature
Created: 11 Oct 2022, 4:04 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Id - MIM#26126960

Publications

Created: 11 Oct 2022, 4:04 a.m.

Panel version: 0.140

History Filter Activity

3 Nov 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: alg3 has been classified as Green List (High Evidence).

3 Nov 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: alg3 has been classified as Green List (High Evidence).

11 Oct 2022, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: ALG3 was added gene: ALG3 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature Mode of inheritance for gene: ALG3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG3 were set to 26126960; 34441372 Phenotypes for gene: ALG3 were set to Congenital disorder of glycosylation, type Id - MIM#26126960 Review for gene: ALG3 was set to GREEN