Monogenic Diabetes
Gene: SLC29A3EnsemblGeneIds (GRCh38): ENSG00000198246
EnsemblGeneIds (GRCh37): ENSG00000198246
OMIM: 612373, Gene2Phenotype
SLC29A3 is in 13 panels
1 review
Hali Van Niel (University of Melbourne)
Well estbalished gene disease association of histiocytosis-lymphadenopathy plus syndrome which may include pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome (PHID).Created: 30 Apr 2024, 1:39 a.m. | Last Modified: 30 Apr 2024, 1:39 a.m.
Panel Version: 0.52
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
H syndrome MONDO:0011273
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Histiocytosis-lymphadenopathy plus syndrome, MIM#602782
- OMIM
- 612373
- Clinvar variants
- Variants in SLC29A3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Skeletal dysplasia
- Nucleotide metabolism disorders
- Fetal anomalies
- Skeletal Dysplasia_Fetal
- Prepair 1000+
- Monogenic Diabetes
- Arthrogryposis
- Mendeliome
- Autoinflammatory Disorders
- Vasculitis
- Intellectual disability syndromic and non-syndromic
- Stickler Syndrome
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc29a3 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SLC29A3 were changed from Histiocytosis-lymphadenopathy plus syndrome,602782; 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) to Histiocytosis-lymphadenopathy plus syndrome, MIM#602782
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: SLC29A3 were set to 19336477
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SLC29A3 was added gene: SLC29A3 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS 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 Histiocytosis-lymphadenopathy plus syndrome,602782; 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)