Hypogonadotropic hypogonadism (GMS)
Gene: SLC29A3EnsemblGeneIds (GRCh38): ENSG00000198246
EnsemblGeneIds (GRCh37): ENSG00000198246
OMIM: 612373, Gene2Phenotype
SLC29A3 is in 13 panels
2 reviews
Simon Thomas (Wessex Regional Genetics Laboratory)
No expert review and appears a poor clinical fit. Histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures, and/or deafness. Autosomal recessive disease involving joint deformities, sensorineural hearing loss, and subsequent development of generalized lymphadenopathy and swellings in the eyelids that contain histiocytes.Created: 22 Mar 2019, 5:03 p.m.
Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Wessex and West Midlands GLH
- NHS GMS
- South West GLH
- Phenotypes
-
- Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782
- H syndrome: characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies and hypogonadism
- OMIM
- 612373
- Clinvar variants
- Variants in SLC29A3
- Penetrance
- None
- Panels with this gene
-
- Autoinflammatory disorders
- Monogenic hearing loss
- Monogenic diabetes
- Pigmentary skin disorders
- Hypogonadotropic hypogonadism
- Familial diabetes
- Hypogonadotropic hypogonadism (GMS)
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- Skeletal dysplasia
- Arthrogryposis
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SLC29A3 were changed from Histiocytosis-lymphadenopathy plus syndrome (OMIM 602782) - H syndrome: characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies and hypogonadism to Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782; H syndrome: characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies and hypogonadism
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: slc29a3 has been classified as Amber List (Moderate Evidence).
Added New Source
Ivone Leong (Genomics England Curator)Source Wessex and West Midlands GLH was added to SLC29A3.
Set Phenotypes
Ivone Leong (Genomics England Curator)Added phenotypes Histiocytosis-lymphadenopathy plus syndrome (OMIM 602782) - H syndrome: characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies and hypogonadism for gene: SLC29A3
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: SLC29A3 was added gene: SLC29A3 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal