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Arthrogryposis

Gene: ALG3

Green List (high evidence)

ALG3 (ALG3, alpha-1,3- mannosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000214160
EnsemblGeneIds (GRCh37): ENSG00000214160
OMIM: 608750, Gene2Phenotype
ALG3 is in 11 panels

2 reviews

Zerin Hyder (Genomics England)

Green List (high evidence)

Denecke et al: child with abnormal glycosylation of several plasma proteins as demonstrated by isoelectric focusing, homozygous frameshift ALG3 mutations and presentation with AMC. Case with ALG3 - CDG and AMC in Fiumara et al. Seven patients from one Saudi pedigree were classified as having ALG3‐CDG with joint contractures, skeletal dysplasia, ambiguous genitalia, lung hypoplasia, congenital heart disease, hepatomegaly with abnormal liver function tests, and microcephaly; all died soon after birth. The identified homozygous mutation in ALG3 was: c.512G>A (p.Arg171Gln).
Created: 27 Nov 2019, 1:34 p.m. | Last Modified: 27 Nov 2019, 1:34 p.m.
Panel Version: 2.84

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Id 601110

Publications

Rebecca Foulger (Genomics England curator)

I don't know

Added to Arthrogryposis panel as suggested by Zerin Hyder (Genomics England Clinical Team).
Created: 26 Nov 2019, 3:16 p.m. | Last Modified: 26 Nov 2019, 3:16 p.m.
Panel Version: 2.64

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, type Id, 601110
OMIM
608750
Clinvar variants
Variants in ALG3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Nov 2019, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: ALG3 were changed from Congenital disorder of glycosylation, type Id to Congenital disorder of glycosylation, type Id, 601110

26 Nov 2019, Gel status: 3

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

Rebecca Foulger (Genomics England curator)

gene: ALG3 was added gene: ALG3 was added to Arthrogryposis. Sources: Literature,Expert Review Green Mode of inheritance for gene: ALG3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG3 were set to 26453362; 28742265; 16006436 Phenotypes for gene: ALG3 were set to Congenital disorder of glycosylation, type Id