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  2. Diabetes with additional phenotypes suggestive of a monogenic aetiology
  3. SLC29A3
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Diabetes with additional phenotypes suggestive of a monogenic aetiology

Gene: SLC29A3

Green List (high evidence)
SLC29A3 (solute carrier family 29 member 3)
EnsemblGeneIds (GRCh38): ENSG00000198246
EnsemblGeneIds (GRCh37): ENSG00000198246
OMIM: 612373, Gene2Phenotype
SLC29A3 is in 13 panels

2 reviews

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 5 Nov 2017, 2:45 a.m.

Panel version: Imported from "Familial diabetes" panel version 0

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted to green due to expert review.
Created: 23 Aug 2016, 11:58 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome

Publications

Created: 23 Aug 2016, 11:57 a.m.

Panel version: 1.17

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782
  • Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome
OMIM
612373
Clinvar variants
Variants in SLC29A3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

10 Jan 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SLC29A3 were changed from Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome to Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782; Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome

23 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

23 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

23 Aug 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC29A3 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Expert Review

23 Aug 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SLC29A3 was created by ellenmcdonagh