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Limb disorders

Gene: ASXL1

Green List (high evidence)

ASXL1 (additional sex combs like 1, transcriptional regulator)
EnsemblGeneIds (GRCh38): ENSG00000171456
EnsemblGeneIds (GRCh37): ENSG00000171456
OMIM: 612990, Gene2Phenotype
ASXL1 is in 9 panels

2 reviews

Andrew Wilkie (University of Oxford)

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

Eleanor Williams (Genomics England Curator)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Bohring-Opitz syndrome, 605039
OMIM
612990
Clinvar variants
Variants in ASXL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: asxl1 has been classified as Green List (High Evidence).

6 Aug 2019, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: ASXL1 were set to

6 Aug 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: ASXL1 were changed from to Bohring-Opitz syndrome, 605039

1 Aug 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

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