SLC2A10

solute carrier family 2 member 10
OMIM: 606145, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green SLC2A10 in Cerebral vascular malformations


Level 2: Neurology
Version 4.10
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Arterial tortuosity syndrome, OMIM:208050
Green SLC2A10 in Thoracic aortic aneurysm or dissection (GMS)


Level 2: Cardiology
Version 4.5
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • South West GLH
  • London South GLH
  • South West GLH
  • London South GLH
Phenotypes
  • Arterial tortuosity syndrome, 208050
  • Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders
Green SLC2A10 in Thoracic aortic aneurysm or dissection

Level 3: Connective tissue disorders and aortopathies
Level 2: Cardiovascular disorders
Version 1.129

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • South West GLH
  • London South GLH
  • Expert Review Green
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders
  • Arterial tortuosity syndrome, 208050
Red SLC2A10 in Ehlers Danlos syndrome with a likely monogenic cause


Level 2: Musculoskeletal
Version 4.6
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Arterial tortuosity syndrome, 208050
  • Connective Tissue Disorders, Cutis laxa
Green SLC2A10 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ARTERIAL TORTUOSITY SYNDROME
Green SLC2A10 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ARTERIAL TORTUOSITY SYNDROME 208050
    Red SLC2A10 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Gene2Phenotype confirmed gene with ID HPO