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| Skeletal dysplasia v1.290 | WRN | Eleanor Williams changed review comment from: Comment on list classification: Keeping red for now. Associated with Werner syndrome with Osteoporosis and slender limbs listed as clinical features in OMIM. Short stature.; to: Comment on list classification: Keeping red for now. Associated with Werner syndrome with Osteoporosis and slender limbs listed as clinical features in OMIM. Short stature. But need confirmation that this is considered strong enough a skeletal dysplasia phenotype before promoting to green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.290 | WRN | Eleanor Williams Classified gene: WRN as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.290 | WRN | Eleanor Williams Added comment: Comment on list classification: Keeping red for now. Associated with Werner syndrome with Osteoporosis and slender limbs listed as clinical features in OMIM. Short stature. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.290 | WRN | Eleanor Williams Gene: wrn has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.217 | WRN | Eleanor Williams Mode of inheritance for gene: WRN was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.217 | WRN | Eleanor Williams Mode of inheritance for gene: WRN was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.216 | WRN |
Eleanor Williams commented on gene: WRN: Associated with Werner syndrome #277700 (AR) in OMIM with Osteoporosis and slender limbs listed as clinical features. From Genetics Home Reference "Werner syndrome is characterized by the dramatic, rapid appearance of features associated with normal aging. Individuals with this disorder typically grow and develop normally until they reach puberty. Affected teenagers usually do not have a growth spurt, resulting in short stature". Numerous variants reported in the RECQL2/WRN gene in association with Werner syndrome in OMIM. |
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| Skeletal dysplasia v1.153 | WRN | Eleanor Williams Added phenotypes Werner syndrome -277700 for gene: WRN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.147 | WRN | Tracy Lester reviewed gene: WRN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Werner syndrome -277700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.146 | WRN | Eleanor Williams reviewed gene: WRN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.145 | WRN |
Eleanor Williams gene: WRN was added gene: WRN was added to Skeletal dysplasia. Sources: NHS GMS Mode of inheritance for gene: WRN was set to |
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