Arthrogryposis
Gene: SLC29A3The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.Created: 11 Mar 2022, 1:41 p.m. | Last Modified: 11 Mar 2022, 1:41 p.m.
Panel Version: 3.154
Comment on list classification: New gene added to this panel by Lucy Jackson (NHS). Fixed flexion contractures of the fingers, toes and elbows have been reported in FHC and H-syndrome. Sufficient unrelated cases of joint contractures which can be a presenting feature to rate as Green at the next GMS panel update.Created: 13 Oct 2021, 10:45 a.m. | Last Modified: 13 Oct 2021, 10:45 a.m.
Panel Version: 3.125
Sources: LiteratureCreated: 8 Oct 2021, 11:19 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Histiocytosis-lymphadenopathy plus syndrome
Variants in this GENE are reported as part of current diagnostic practice
Tag Q4_21_rating was removed from gene: SLC29A3. Tag Q4_21_NHS_review was removed from gene: SLC29A3.
Source Expert Review Green was added to SLC29A3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Publications for gene: SLC29A3 were set to
Tag Q4_21_rating tag was added to gene: SLC29A3.
Gene: slc29a3 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: SLC29A3 were changed from Histiocytosis-lymphadenopathy plus syndrome to Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782
Tag Q4_21_NHS_review tag was added to gene: SLC29A3.
gene: SLC29A3 was added gene: SLC29A3 was added to Arthrogryposis. Sources: Literature Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC29A3 were set to Histiocytosis-lymphadenopathy plus syndrome Review for gene: SLC29A3 was set to GREEN gene: SLC29A3 was marked as current diagnostic