Monogenic diabetes
Gene: SLC29A3EnsemblGeneIds (GRCh38): ENSG00000198246
EnsemblGeneIds (GRCh37): ENSG00000198246
OMIM: 612373, Gene2Phenotype
SLC29A3 is in 13 panels
3 reviews
Ivone Leong (Genomics England Curator)
Comment on phenotypes: Previous phenotypes:
Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome;H syndrome (hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and hyperglycaemia) and PHID syndrome (pigmented hypertrichosis with insulin dependent diabetes);Histiocytosis-lymphadenopathy plus syndrome,602782Created: 16 Mar 2021, 2:27 p.m. | Last Modified: 16 Mar 2021, 2:27 p.m.
Panel Version: 2.36
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)
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
-
- Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782
- OMIM
- 612373
- Clinvar variants
- Variants in SLC29A3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Hypogonadotropic hypogonadism (GMS)
- Hypogonadotropic hypogonadism
- Monogenic diabetes
- Arthrogryposis
- Monogenic hearing loss
- Skeletal dysplasia
- Fetal anomalies
- Pigmentary skin disorders
- COVID-19 research
- Familial diabetes
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Autoinflammatory disorders
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: SLC29A3 were changed from Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome; H syndrome (hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and hyperglycaemia) and PHID syndrome (pigmented hypertrichosis with insulin dependent diabetes); Histiocytosis-lymphadenopathy plus syndrome,602782 to Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: SLC29A3 were changed from Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome to Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome; H syndrome (hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and hyperglycaemia) and PHID syndrome (pigmented hypertrichosis with insulin dependent diabetes); Histiocytosis-lymphadenopathy plus syndrome,602782
Panel promoted to version 1.0
Ivone Leong (Genomics England Curator)Ivone Leong: Initial gene list and info col
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to SLC29A3.
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome for gene: SLC29A3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: SLC29A3 was added gene: SLC29A3 was added to Monogenic diabetes. Sources: Expert Review Green Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC29A3 were set to 19336477 Phenotypes for gene: SLC29A3 were set to Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome