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  2. Hydrops fetalis
  3. SLC35D1
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Hydrops fetalis

Gene: SLC35D1

Red List (low evidence)
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)

Red List (low evidence)

Single case report of hydrops, no molecular testing.
Sources: Expert list
Created: 22 Aug 2020, 2:13 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Schneckenbecken dysplasia, MIM# 269250

Publications

Created: 22 Aug 2020, 2:13 a.m.

Panel version: 0.171

Details

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

History Filter Activity

22 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc35d1 has been classified as Red List (Low Evidence).

22 Aug 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC35D1 was added gene: SLC35D1 was added to Hydrops fetalis. Sources: Expert list Mode of inheritance for gene: SLC35D1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC35D1 were set to 11200994 Phenotypes for gene: SLC35D1 were set to Schneckenbecken dysplasia, MIM# 269250 Review for gene: SLC35D1 was set to RED