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