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Prepair 1000+

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

1 review

Kate Scarff (Victorian Clinical Genetics Services)

Green List (high evidence)

Perinatally lethal skeletal dysplasia. 'Schneckenbecken' refers to 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. Described in >5 unrelated families.
Knock-out mouse model described PMID: 17952091.
More recently, two families with milder phenotypes have been reported (PMID: 38058750;35934917)
Created: 2 Jan 2025, 12:18 a.m. | Last Modified: 2 Jan 2025, 12:18 a.m.
Panel Version: 1.984

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Schneckenbecken dysplasia, MIM #269250

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Schneckenbecken dysplasia, MIM#269250
OMIM
610804
Clinvar variants
Variants in SLC35D1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Jan 2025, 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).

17 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC35D1 were changed from Schneckenbecken dysplasia, 269250 (3) to Schneckenbecken dysplasia, MIM#269250

17 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC35D1 were set to

1 Jun 2022, 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 Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,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 (3)