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| Limb disorders v1.117 | ASXL1 | Eleanor Williams Classified gene: ASXL1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.117 | ASXL1 | Eleanor Williams Added comment: Comment on list classification: Severe multisystem presentation but various limb disorders are reported including rhizomelia, abnormal flexion at the elbow and wrist, syndactyly and camptodactyly. Green rating agreed with Genomics England clinical team. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.117 | ASXL1 | Eleanor Williams Gene: asxl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.29 | ASXL1 | Eleanor Williams Publications for gene: ASXL1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.28 | ASXL1 | Eleanor Williams Phenotypes for gene: ASXL1 were changed from to Bohring-Opitz syndrome, 605039 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.27 | ASXL1 |
Eleanor Williams commented on gene: ASXL1: Associated with Bohring-Opitz syndrome 605039 in OMIM and Gene2Phenotype (confirmed). PMID: 21706002 - Hoischen et al. 2011 - 7 cases - sequenced 13 unrelated patients with Bohring-Opitz syndrome and found de novo heterozygous mutations in 7 of them. All 7 showed a typical BOS posture with flexed elbows and wrists and ulnar deviation of wrists and metacarpophalangeal joints. Syndactyly was observed in 3 out of the 7. Fixed contractures were observed in 6/7. PMID: 22419483 - Magini et al. 2012 - In 2 unrelated patients with classic features of Bohring-Opitz syndrome, identified 2 different de novo heterozygous truncating mutations in the ASXL1 gene not previously reported. Patient 1 - axial hypotonia, limitation of elbow extension, right talipes valgus, and typical facial appearance: prominent forehead, hemangioma over the forehead and glabella, exophthalmos, ptosis, hypertelorism, low‐set, and posteriorly angulated ears, long philtrum, and everted lower lip. Patient 2 had multiple phenotypic features that include flexion deformities of upper limbs joints, at elbow and wrist level with ulnar deviation of both hands, overlapping digits, abduced thumb, clenched fists, deep single palmar crease, typical BOS posture and hypertonia, with contractures at hips, knees, and ankles. Talo‐valgus deformity of feet was present |
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| Limb disorders v1.24 | ASXL1 | Andrew Wilkie reviewed gene: ASXL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.13 | ASXL1 |
Eleanor Williams gene: ASXL1 was added gene: ASXL1 was added to Limb disorders. Sources: Expert list Mode of inheritance for gene: ASXL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Review for gene: ASXL1 was set to AMBER Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust Sources: Expert list |
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