Congenital disorders of glycosylation
Gene: SLC35A2
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 9:14 a.m. | Last Modified: 1 Feb 2023, 9:14 a.m.
Panel Version: 3.4
Gene-disease association is well-established, XLD inheritance, mosaicism in males. Phenotypes are mostly CNS related (epilepsy, dev delay, etc). Only a minority have abnormal transferrin glycosylation (10/53 reported individuals according to PMID: 30817854). 3 unrelated individuals with de novo variants reported in PMID:23561849, 2 males and 1 female. The males were mosaic. "In infancy, the commonly used biomarker transferrin showed abnormal glycosylation, but its appearance became normal later in childhood, without any corresponding clinical improvement." 4 unrelated girls with de novo variants and early onset epileptic encephalopathy reported in PMID:24115232 and PMID:27743886. None showed abnormal glycosylation although 'favourable X-inactivation skewing' was noted for some. One more girl with a de novo variant and defective galactosylation of N‐glycans, developmental delay, muscular hypotonia, epileptic seizures, inverted nipples, and visual impairment was described in PMID:25778940. PMID:30817854 describes another 30 individuals with de novo variants. Only 1 was male (not apparently mosaic), and only 4 had abnormal carbohydrate deficient transferrin.Created: 22 Jul 2020, 6:12 a.m. | Last Modified: 22 Jul 2020, 6:12 a.m.
Panel Version: 2.14
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Congenital disorder of glycosylation, type IIm (MIM #300896)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 8 Feb 2021, 5:05 p.m. | Last Modified: 8 Feb 2021, 5:05 p.m.
Panel Version: 2.62
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 3 variants reported, as hemizygous in two males and mononallelic in another.Created: 19 Dec 2016, 2:04 p.m.
Can be a mosaic mutation in malesCreated: 14 Dec 2016, 2:21 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications
Tag Q2_21_rating was removed from gene: SLC35A2.
Source Expert Review Green was added to SLC35A2. Source NHS GMS was added to SLC35A2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: slc35a2 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: SLC35A2 were changed from Congenital disorder of glycosylation, type IIm 300896 to Congenital disorder of glycosylation, type IIm OMIM:300896; Developmental and epileptic encephalopathy-22 OMIM:300896; SLC35A2-CDG MONDO:0010478
Phenotypes for gene: SLC35A2 were changed from Congenital disorder of glycosylation, type IIm OMIM:300896; developmental and epileptic encephalopathy-22 OMIM:300896; SLC35A2-CDG MONDO:0010478 to Congenital disorder of glycosylation, type IIm 300896
Publications for gene: SLC35A2 were set to 23561849; 24115232; 27743886; 25778940; 30817854
Tag Q2_21_rating tag was added to gene: SLC35A2.
Phenotypes for gene: SLC35A2 were changed from Congenital disorder of glycosylation, type IIm OMIM:300896; SLC35A2-CDG MONDO:0010478 to Congenital disorder of glycosylation, type IIm OMIM:300896; developmental and epileptic encephalopathy-22 OMIM:300896; SLC35A2-CDG MONDO:0010478
Phenotypes for gene: SLC35A2 were changed from Congenital disorder of glycosylation, type IIm 300896 to Congenital disorder of glycosylation, type IIm OMIM:300896; SLC35A2-CDG MONDO:0010478
Publications for gene: SLC35A2 were set to 25778940; 27743886; 23561849
Promoted to V1 19th December 2016
This gene has been classified as Amber List (Moderate Evidence).
Publications for SLC35A2 were set to 25778940; 27743886; 23561849
SLC35A2 was added to Congenital disorders of glycosylationpanel. Source: UKGTN
SLC35A2 was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen
SLC35A2 was created by sleigh
SLC35A2 was added to Congenital disorders of glycosylationpanel. Sources: Other