Congenital Disorders of Glycosylation
Gene: SLC35D1

SLC35D1 (solute carrier family 35 member D1)
EnsemblGeneIds (GRCh38): ENSG00000116704
EnsemblGeneIds (GRCh37): ENSG00000116704
OMIM: 610804, Gene2Phenotype
SLC35D1 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Schneckenbecken dysplasia is a perinatally lethal skeletal dysplasia, characterised by the distinctive, snail-like appearance of the ilia that results from a medial bone projection from the inner iliac margin. Other hallmarks of the disorder include thoracic hypoplasia, severe flattening of the vertebral bodies, and short, thick long bones. Six unrelated families reported.
Created: 21 Dec 2020, 11:47 p.m. | Last Modified: 21 Dec 2020, 11:47 p.m.

Panel Version: 0.354

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Schneckenbecken dysplasia 269250, MONDO:0010013; O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation)

Publications

Created: 21 Dec 2020, 11:47 p.m.
Last Modified: 21 Dec 2020, 11:47 p.m.
Panel version: 0.357

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Schneckenbecken dysplasia 269250, MONDO:0010013
O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation)

OMIM

610804

Clinvar variants

Variants in SLC35D1

Penetrance

None

Publications

Panels with this gene