Lysosomal storage disorder
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, 11:23 a.m. | Last Modified: 1 Feb 2023, 11:23 a.m.
Panel Version: 2.3
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, 2:40 p.m. | Last Modified: 24 Mar 2021, 2:40 p.m.
Panel Version: 1.69
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nonaka myopathy 605820; Sialuria 269921 (AD)
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
Publications for gene: GNE were set to
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.
Phenotypes for gene: GNE were changed from Sialuria 269921 (AD); Nonaka myopathy 605820 to Sialuria OMIM:269921; sialuria MONDO:0010028; Nonaka myopathy OMIM:605820; GNE myopathy MONDO:0011603
gene: GNE was added gene: GNE was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: GNE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GNE were set to Sialuria 269921 (AD); Nonaka myopathy 605820