Skeletal dysplasia
Gene: SLC29A3
Osteopetrosis and related disorders SD gp. >3 cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Histiocytosis-lymphadenopathy plus syndrome 602782
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: SLC29A3; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:37 a.m.
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)Created: 21 Jun 2016, 1:09 p.m.
Tier 1Created: 17 Jun 2016, 8:08 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Histiocytosis-lymphadenopathy plus syndrome 602782; Campeau PM et al. Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis. Hum Mol Genet. 2012 Nov 15, 21(22):4904-9.
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: SLC29A3 were changed from Histiocytosis-lymphadenopathy plus syndrome 602782 to Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782
Added phenotypes Histiocytosis-lymphadenopathy plus syndrome 602782 for gene: SLC29A3
Source NHS GMS was added to SLC29A3. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for SLC29A3 were set to Histiocytosis-lymphadenopathy plus syndrome 602782
Mode of inheritance for SLC29A3 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
SLC29A3 was created by sleigh
SLC29A3 was added to Unexplained skeletal dysplasiapanel. Sources: