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  3. SLC35D1
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Skeletal dysplasia

Gene: SLC35D1

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

2 reviews

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, 11:50 p.m. | Last Modified: 21 Dec 2020, 11:50 p.m.
Panel Version: 0.5761

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 21 Dec 2020, 11:50 p.m.
Last Modified: 21 Dec 2020, 11:50 p.m.
Panel version: Imported from Mendeliome panel version 0.5761

Teresa Zhao (Victorian Clinical Genetics Services)

Green List (high evidence)

Furuichi 2009: 5 unrelated patients reported

Rautengarten 2019: additional hom patient reported with carrier parents.
Created: 20 Apr 2020, 5:55 a.m. | Last Modified: 20 Apr 2020, 5:55 a.m.
Panel Version: 0.2439

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Schneckenbecken dysplasia, MIM 269250

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 20 Apr 2020, 5:55 a.m.
Last Modified: 20 Apr 2020, 5:55 a.m.
Panel version: Imported from Mendeliome panel version 0.2439

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Schneckenbecken dysplasia 269250
  • Schneckenbecken dysplasia 269250
OMIM
610804
Clinvar variants
Variants in SLC35D1
Penetrance
None
Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC35D1 was added gene: SLC35D1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SLC35D1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC35D1 were set to Schneckenbecken dysplasia 269250; Schneckenbecken dysplasia 269250