Likely inborn error of metabolism - targeted testing not possible
Gene: GNEThe mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 10:24 a.m. | Last Modified: 1 Feb 2023, 10:24 a.m.
Panel Version: 3.6
Comment on phenotypes: Nonaka myopathy 605820;Sialuria (Other lysosomal disorders);UDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways);ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)Created: 24 Mar 2021, 2:44 p.m. | Last Modified: 24 Mar 2021, 2:44 p.m.
Panel Version: 2.103
Comment on mode of inheritance: The phenotype for GNE in this panel should be changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomalCreated: 24 Mar 2021, 2:42 p.m. | Last Modified: 24 Mar 2021, 2:42 p.m.
Panel Version: 2.102
Tag Q2_21_MOI was removed from gene: GNE.
Mode of inheritance for gene GNE was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GNE were changed from Nonaka myopathy 605820; Sialuria (Other lysosomal disorders); UDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways); ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) to Sialuria OMIM:269921; sialuria MONDO:0010028; Nonaka myopathy OMIM:605820; GNE myopathy MONDO:0011603
Mode of inheritance for gene: GNE was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Tag Q2_21_MOI tag was added to gene: GNE.
Source NHS GMS was added to GNE. Source London North GLH was added to GNE.
Ellen McDonagh: Comment on mode of pathogenici
Added phenotypes Nonaka myopathy 605820; ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) for gene: GNE Publications for gene GNE were changed from 27604308 to 26721333
gene: GNE was added gene: GNE was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GNE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNE were set to 27604308 Phenotypes for gene: GNE were set to Nonaka myopathy 605820; ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways); UDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways); Sialuria (Other lysosomal disorders)