Activity

Filter

Cancel
Date Panel Item Activity
11 actions
Arthrogryposis v9.18 FGFR3 Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotype accessed 20th Jan 2026.
Arthrogryposis v9.18 FGFR3 Ida Ertmanska Phenotypes for gene: FGFR3 were changed from CATSHL syndrome, OMIM:610474; camptodactyly-tall stature-scoliosis-hearing loss syndrome, MONDO:0012504 to CATSHL syndrome, OMIM:610474; camptodactyly-tall stature-scoliosis-hearing loss syndrome, MONDO:0012504
Arthrogryposis v9.17 FGFR3 Ida Ertmanska Phenotypes for gene: FGFR3 were changed from CATSHL syndrome 610474 to CATSHL syndrome, OMIM:610474; camptodactyly-tall stature-scoliosis-hearing loss syndrome, MONDO:0012504
Arthrogryposis v9.16 FGFR3 Ida Ertmanska Publications for gene: FGFR3 were set to 17033969
Arthrogryposis v9.15 FGFR3 Ida Ertmanska Tag Q1_26_MOI tag was added to gene: FGFR3.
Arthrogryposis v9.15 FGFR3 Ida Ertmanska commented on gene: FGFR3: Comment on mode of inheritance: Mutations in FGFR3 may rarely cause Camptodactyly-Tall Stature-Scoliosis-Hearing Loss (CATSHL) syndrome. To date, 3 families with dominant and 1 with recessive CATSHL syndrome have been reported. All dominant cases involve a missense change at the same residue (621), while recessive disease was cause by a missense variant p.Thr546Lys. The mode of inheritance for FGFR3 should be changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted for Arthrogryposis, until more cases emerge in support of recessive inheritance.
Arthrogryposis v9.15 FGFR3 Ida Ertmanska reviewed gene: FGFR3: Rating: GREEN; Mode of pathogenicity: None; Publications: 17033969, 24864036, 27139183, 37990933; Phenotypes: CATSHL syndrome, OMIM:610474; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arthrogryposis FGFR3 Alice Gardham marked FGFR3 as ready
Arthrogryposis FGFR3 Alice Gardham classified FGFR3 as green
Arthrogryposis FGFR3 Alice Gardham added FGFR3 to panel
Arthrogryposis FGFR3 Alice Gardham reviewed FGFR3