Limb disorders

Gene: ASXL1

Comment on phenotypes: OMIM phenotype accessed 3rd Nov 2025.

Created: 3 Nov 2025, 5:23 p.m. | Last Modified: 3 Nov 2025, 5:23 p.m.

Panel Version: 7.13

I don't know

Gene suggested for the panel

Created: 1 Aug 2019, 5:10 p.m. | Last Modified: 1 Aug 2019, 5:10 p.m.

Panel Version: 1.24

I don't know

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.

Created: 25 Nov 2019, 11:59 p.m. | Last Modified: 25 Nov 2019, 11:59 p.m.

Panel Version: 1.117

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

Created: 6 Aug 2019, 3:08 p.m. | Last Modified: 6 Aug 2019, 3:08 p.m.

Panel Version: 1.27

Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust
Sources: Expert list

Created: 1 Aug 2019, 2:07 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown