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Mendeliome

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

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Schneckenbecken dysplasia, MIM 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

History Filter Activity

21 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC35D1 were changed from Schneckenbecken dysplasia, MIM 269250 to Schneckenbecken dysplasia, MIM 269250, MONDO:0010013; O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation)

21 Dec 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC35D1 were set to 31423530; 19508970

21 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc35d1 has been classified as Green List (High Evidence).

21 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC35D1 were changed from to Schneckenbecken dysplasia, MIM 269250

21 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC35D1 were set to

21 Apr 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SLC35D1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC35D1 was added gene: SLC35D1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC35D1 was set to Unknown