PanelApp (staging)
  1. Genes and Genomic Entities
  2. SLC35D1

SLC35D1

solute carrier family 35 member D1
OMIM: 610804, ClinGen, DECIPHER

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green SLC35D1 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.225

1 review Unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship

Green SLC35D1 in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 1.58

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review 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)

    Red SLC35D1 in Hydrops fetalis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.324

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Schneckenbecken dysplasia, MIM# 269250

    Green SLC35D1 in Mendeliome


    Version 1.2302

    		2 reviews 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)

    Green SLC35D1 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.302

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Schneckenbecken dysplasia 269250
    • Schneckenbecken dysplasia 269250

    Green SLC35D1 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Schneckenbecken dysplasia, 269250 (3)

    Green SLC35D1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Schneckenbecken dysplasia

    Green SLC35D1 in Fetal anomalies


    Version 1.313

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Schneckenbecken dysplasia 269250, MONDO:0010013
    • O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation)

    Green SLC35D1 in Prepair 1000+


    Level 2: Screening
    Version 1.1566

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Schneckenbecken dysplasia, MIM#269250

    Red SLC35D1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Schneckenbecken dysplasia 269250, MONDO:0010013