Ehlers Danlos syndromes

Gene: SLC2A10

Red List (low evidence)

SLC2A10 (solute carrier family 2 member 10)
EnsemblGeneIds (GRCh38): ENSG00000197496
EnsemblGeneIds (GRCh37): ENSG00000197496
OMIM: 606145, Gene2Phenotype
SLC2A10 is in 9 panels

4 reviews

Helen Brittain (Genomics England Curator)

Red List (low evidence)

There is a clear gene-disease association but in view of the relatively discrete vascular phenotype, this gene would be best placed on the FTAAD panel rather than as a differential diagnosis for those with connective tissue disease. Those with a vascular phenotype in addition would be offered the FTAAD panel in addition. D/W Neeti Ghali, EDS Specialist Clinic who is in agreement.
Created: 25 Jul 2017, 1:03 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Angela Brady (Nhs)

Green List (high evidence)

Neeti Ghali (NWTRGS, Northwick Park Hospital)

Green List (high evidence)

Differential for EDS. Review from EDS National Diagnostic Service North West London Hospital NHS Trust: Dr Angela Brady FRCP PhD, Consultant Clinical Geneticist; Dr Neeti Ghali MBChB MD, Consultant Clinical Geneticist; Dr Fleur S van Dijk MD PhD, Consultant.
Created: 7 Jul 2017, 6:29 p.m.

Louise Daugherty (Genomics England Curator)

Comment on mode of inheritance: updated MOI
Created: 26 Jul 2017, 2:23 p.m.
Comment on phenotypes: Removed 'Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders' as this comes from the name of the sequencing panel from EGL Genetics. Gene on panel due to associated clinical phenotypes of Joint laxity and Hyperextensibility of the skin, need to check with clinical team team if this gene should remain on this panel based on update to eligibility statement.
Created: 4 May 2017, 9:07 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Arterial tortuosity syndrome, 208050
  • Connective Tissue Disorders, Cutis laxa
OMIM
606145
Clinvar variants
Variants in SLC2A10
Penetrance
Complete
Panels with this gene

History Filter Activity

26 Jul 2017, Gel status: 1

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for SLC2A10 was changed to BIALLELIC, autosomal or pseudoautosomal

25 Jul 2017, Gel status: 1

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.

7 May 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for SLC2A10 were set to Arterial tortuosity syndrome, 208050; Connective Tissue Disorders, Cutis laxa

4 May 2017, Gel status: 1

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for SLC2A10 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

4 May 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for SLC2A10 were set to Arterial tortuosity syndrome, 208050

24 Jan 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC2A10 was added to Ehlers-Danlos syndromespanel. Sources: Emory Genetics Laboratory,Expert list

24 Jan 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SLC2A10 was created by ellenmcdonagh