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Hearing loss

Gene: SLC29A3

Red List (low evidence)

SLC29A3 (solute carrier family 29 member 3)
EnsemblGeneIds (GRCh38): ENSG00000198246
EnsemblGeneIds (GRCh37): ENSG00000198246
OMIM: 612373, Gene2Phenotype
SLC29A3 is in 9 panels

3 reviews

Maria Bitner-Glindzicz (UCL)

Red List (low evidence)

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Demoted from amber to red after expert review. Mutations in this gene have been associated with histocytosis-lymphadenopathy plus syndrome, and patients may have sensorineural deafness/hearing loss included as part of their symptoms.
Created: 23 Feb 2016, 12:32 p.m.

Jun Shen (Harvard Medical School)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#602782:Histiocytosis-lymphadenopathy plus syndrome[Short stature; Submandibular lymphadenopathy; Hearing loss, sensorineural; Histiocytic deposits in eyelidsEyelid infiltratesOrbital mass due to histiocytosisExophthalmosEpiscleritis; Nasal mass due to histiocytosis; Retropharyngeal lymphadenopathy; Cervical lymphadenopathy; Atrial septal defect (rare)Ventricular septal defect (rare)Septal thickening (rare)Mitral valve prolapse (rare)Cardiomegaly (rare)Bicommissural aortic valve (rare); Inguinal lymphadenopathy, bilateral, extending across suprapubic area; Hepatomegaly; Diabetes mellitus, insulin-dependentPancreatic exocrine deficiencyPancreatomegaly (rare)Pancreatic hypoplasia, mild (rare); Splenomegaly; Intrauterine fractures of long bones and clavicles; Contractures of elbows; Contractures of fingersCamptodactylyClinodactyly; Contractures of toesHallux valgus; Retroperitoneal fibrosis (rare); Fever; Diabetes mellitus, insulin-dependentHypergonadotropic hypogonadismHypogonadotropic hypogonadism (rare)Growth hormone deficiency; Nonclonal myeloproliferation; Hyperglobulinemia, polyclonal (in some patients)Lymphadenopathy, generalized (in some patients); Elevated inflammatory markers]

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Histiocytosis-lymphadenopathy plus syndrome
  • Hyperpigmentation, Cutaneous, with Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, Hearing Loss, and Hypogonadism
OMIM
612373
Clinvar variants
Variants in SLC29A3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

23 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

23 Feb 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for SLC29A3 were set to Histiocytosis-lymphadenopathy plus syndrome; Hyperpigmentation, Cutaneous, with Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, Hearing Loss, and Hypogonadism

23 Feb 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SLC29A3 were set to PMID: 15701636; 16118898; 16155931; 16650224; 17461801; 18940313; 18947330; 19175903; 19889517; 20140240; 20595384; 20619369; 21178579; 21888995; 22174130; 22238637; 22653152; 22875837; 23530176; 9545394

23 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

24 Jun 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SLC29A3 was changed to BIALLELIC, autosomal or pseudoautosomal

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC29A3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC29A3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory