Activity

Filter

Cancel
Date Panel Item Activity
3 actions
Skeletal dysplasia v0.372 Bryony Thompson Copied STR HOXD13_SPD1_GCG from panel Repeat Disorders
Skeletal dysplasia v0.372 HOXD13_SPD1_GCG Bryony Thompson STR: HOXD13_SPD1_GCG was added
STR: HOXD13_SPD1_GCG was added to Skeletal dysplasia. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: HOXD13_SPD1_GCG.
Mode of inheritance for STR: HOXD13_SPD1_GCG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: HOXD13_SPD1_GCG were set to 8817328; 33811808; 33533119
Phenotypes for STR: HOXD13_SPD1_GCG were set to Synpolydactyly 1 MIM#186000
Skeletal dysplasia v0.0 HOXD13 Zornitza Stark gene: HOXD13 was added
gene: HOXD13 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: HOXD13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HOXD13 were set to 17236141; 12649808; 9758628
Phenotypes for gene: HOXD13 were set to Brachydactyly, type E 113300; Brachydactyly, type D 113200; Syndactyly, type V 186300; Synpolydactyly 1 186000; Brachydactyly-syndactyly syndrome 610713