Monogenic hearing loss
Gene: SLC29A3
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.
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
Phenotypes for gene: SLC29A3 were changed from Histiocytosis-lymphadenopathy plus syndrome; Hyperpigmentation, Cutaneous, with Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, Hearing Loss, and Hypogonadism to Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782; Hyperpigmentation, Cutaneous, with Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, Hearing Loss, and Hypogonadism
This gene has been classified as Red List (Low Evidence).
Phenotypes for SLC29A3 were set to Histiocytosis-lymphadenopathy plus syndrome; Hyperpigmentation, Cutaneous, with Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, Hearing Loss, and Hypogonadism
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
This gene has been classified as Red List (Low Evidence).
Model of inheritance for gene SLC29A3 was changed to BIALLELIC, autosomal or pseudoautosomal
SLC29A3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory
SLC29A3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory