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| Skeletal dysplasia v8.32 | FGFR3 | Eleanor Williams Phenotypes for gene: FGFR3 were changed from Thanatophoric dysplasia, type I 187600; Muenke syndrome 602849; CATSHL syndrome 610474; SADDAN 616482; Thanatophoric dysplasia, type II 187601; Achondroplasia 100800; LADD syndrome 149730; Hypochondroplasia 146000; Crouzon syndrome with acanthosis nigricans 612247 to CATSHL syndrome, OMIM:610474; camptodactyly-tall stature-scoliosis-hearing loss syndrome, MONDO:0012504 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v8.31 | FGFR3 | Eleanor Williams Publications for gene: FGFR3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v8.30 | FGFR3 | Ida Ertmanska Tag Q1_26_MOI tag was added to gene: FGFR3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v8.30 | FGFR3 | Ida Ertmanska edited their review of gene: FGFR3: Added comment: Comment on mode of inheritance: FGFR3 variants are associated with several dominant conditions that include skeletal dysplasia. However, evidence of recessive inheritance is lacking. To date, one family has been reported with autosomal recessive Camptodactyly-Tall Stature-Scoliosis-Hearing Loss (CATSHL) syndrome. 3 other families were reported with a dominantly inherited CATSHL syndrome. 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 Skeletal dysplasia, until more cases emerge in support of recessive inheritance.; Changed publications to: 17033969, 24864036, 27139183, 37990933; Changed phenotypes to: CATSHL syndrome, OMIM:610474, camptodactyly-tall stature-scoliosis-hearing loss syndrome, MONDO:0012504 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v8.30 | FGFR3 | Ida Ertmanska reviewed gene: FGFR3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.153 | FGFR3 | Eleanor Williams Added phenotypes Thanatophoric dysplasia, type I 187600; Muenke syndrome 602849; CATSHL syndrome 610474; SADDAN 616482; Thanatophoric dysplasia, type II 187601; Achondroplasia 100800; LADD syndrome 149730; Hypochondroplasia 146000; Crouzon syndrome with acanthosis nigricans 612247 for gene: FGFR3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.151 | FGFR3 | Tracy Lester edited their review of gene: FGFR3: Added comment: This gene should definitely be green; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.147 | FGFR3 | Tracy Lester reviewed gene: FGFR3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Achondroplasia 100800, CATSHL syndrome 610474, Crouzon syndrome with acanthosis nigricans 612247, Hypochondroplasia 146000, LADD syndrome 149730, Muenke syndrome 602849, SADDAN 616482, Thanatophoric dysplasia, type I 187600, Thanatophoric dysplasia, type II 187601; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.146 | FGFR3 | Eleanor Williams reviewed gene: FGFR3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.145 | FGFR3 |
Eleanor Williams Source NHS GMS was added to FGFR3. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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