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Arthrogryposis v3.154 | SLC29A3 |
Ivone Leong Tag Q4_21_rating was removed from gene: SLC29A3. Tag Q4_21_NHS_review was removed from gene: SLC29A3. |
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Arthrogryposis v3.154 | SLC29A3 | Sarah Leigh commented on gene: SLC29A3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v3.153 | SLC29A3 |
Ivone Leong Source Expert Review Green was added to SLC29A3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Arthrogryposis v3.126 | SLC29A3 | Arina Puzriakova Publications for gene: SLC29A3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v3.125 | SLC29A3 | Arina Puzriakova Tag Q4_21_rating tag was added to gene: SLC29A3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v3.125 | SLC29A3 | Arina Puzriakova Classified gene: SLC29A3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v3.125 | SLC29A3 | Arina Puzriakova Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v3.125 | SLC29A3 | Arina Puzriakova Gene: slc29a3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v3.124 | SLC29A3 | Arina Puzriakova Phenotypes for gene: SLC29A3 were changed from Histiocytosis-lymphadenopathy plus syndrome to Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v3.123 | SLC29A3 | Arina Puzriakova Tag Q4_21_NHS_review tag was added to gene: SLC29A3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v3.122 | SLC29A3 |
Lucy Jackson 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 Added comment: Sources: Literature |