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| Skeletal dysplasia v2.184 | DLX5 |
Eleanor Williams Tag Q3_21_MOI was removed from gene: DLX5. Tag Q3_21_NHS_review was removed from gene: DLX5. |
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| Skeletal dysplasia v2.184 | DLX5 | Eleanor Williams commented on gene: DLX5: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.183 | DLX5 | Eleanor Williams Mode of inheritance for gene DLX5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.115 | DLX5 | Arina Puzriakova Tag Q3_21_NHS_review tag was added to gene: DLX5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.114 | DLX5 | Ivone Leong Phenotypes for gene: DLX5 were changed from Split-hand/foot malformation 1 with sensorineural hearing loss 220600 to ?Split-hand/foot malformation 1 with sensorineural hearing loss, OMIM:220600; Split-hand/foot malformation 1, OMIM:183600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.113 | DLX5 | Ivone Leong Tag Q3_21_MOI tag was added to gene: DLX5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.113 | DLX5 | Ivone Leong reviewed gene: DLX5: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.106 | DLX5 | Tracy Lester edited their review of gene: DLX5: Added comment: This gene is primarily monoallelic inheritance, many families reported. Biallelic inheritance has been rarely reported and seems to result in a more severe phenotype with deafness as well. Please update mode of inheritance to include monoallelic as well as biallelic, as a variant in this gene was almost missed because it was not in the tier 1 and 2. Thanks; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Set current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.153 | DLX5 |
Eleanor Williams Added phenotypes Split-hand/foot malformation 1 with sensorineural hearing loss 220600 for gene: DLX5 Publications for gene DLX5 were changed from to 27085093 |
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| Skeletal dysplasia v1.147 | DLX5 | Tracy Lester reviewed gene: DLX5: Rating: GREEN; Mode of pathogenicity: ; Publications: 27085093; Phenotypes: Split-hand/foot malformation 1 with sensorineural hearing loss 220600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.146 | DLX5 | Eleanor Williams reviewed gene: DLX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.145 | DLX5 |
Eleanor Williams Source NHS GMS was added to DLX5. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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