Hypogonadotropic hypogonadism (GMS)
Gene: SLC29A3
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.
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
Gene: slc29a3 has been classified as Amber List (Moderate Evidence).
Source Wessex and West Midlands GLH was added to SLC29A3.
Added phenotypes Histiocytosis-lymphadenopathy plus syndrome (OMIM 602782) - H syndrome: characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies and hypogonadism for gene: SLC29A3
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