Familial diabetes

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 10 panels

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Sian Ellard, University of Exeter Medical School, August 2018 on behalf of the GMS Endocrinology specialist test group. Gene Symbol submitted: SLC29A3; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: H syndrome (hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and hyperglycaemia) and PHID syndrome (pigmented hypertrichosis with insulin dependent diabetes).
Created: 11 Jan 2019, 10:04 a.m.

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Gene added to the panel as green due to expert review.
Created: 15 Jun 2016, 3:31 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • 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

28 Jun 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).

28 Jun 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for SLC29A3 were set to Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome

28 Jun 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SLC29A3 were set to 19336477

15 Jun 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).

16 Oct 2015, Gel status: 0

Added New Source

Sian Ellard (University of Exeter Medical School)

SLC29A3 was added to Familial diabetespanel. Sources: Expert Review