Likely inborn error of metabolism - targeted testing not possible
Gene: SLC39A8
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 4 variants reported in 3 unrelated casesCreated: 5 Aug 2019, 10:38 a.m. | Last Modified: 5 Aug 2019, 10:38 a.m.
Panel Version: 1.423
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type IIn 616721
Publications
Associated with phenotype in OMIM and as a confirmed G2P. At least variants reported. More than 3 families described with the relevant phenotype and biallelic variantsCreated: 23 Feb 2017, 5:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type IIn 616721
Publications
Source NHS GMS was added to SLC39A8. Source London North GLH was added to SLC39A8.
Ellen McDonagh: Comment on mode of pathogenici
Added phenotypes Congenital disorder of glycosylation, type IIn 616721 for gene: SLC39A8 Publications for gene SLC39A8 were changed from 27604308 to 26637978; 26637979
gene: SLC39A8 was added gene: SLC39A8 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC39A8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC39A8 were set to 27604308 Phenotypes for gene: SLC39A8 were set to Congenital disorder of glycosylation, type IIn 616721; Hypomagnesaemia with cerebellar atrophy, hypotonia, strabismus, developmental delay, short stature, mild skeletal dysplasia, and connective tissue abnormalities (Disorder of magnesium metabolism)