GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: ASXL2

ASXL2 (additional sex combs like 2, transcriptional regulator)
EnsemblGeneIds (GRCh38): ENSG00000143970
EnsemblGeneIds (GRCh37): ENSG00000143970
OMIM: 612991, Gene2Phenotype
ASXL2 is in 6 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Neither gene nor Bohring listed in SD nosology paper. Prominent metopic suture frequently associated with Bohring-Opitz syndrome with 90% having trigonocephaly. Also flexion of elbows and wrists with deviation of wrists and metacarpophalangeal joints. Many cases reported - green if fits as SD. Note added by AW - ASXL2 yes, skeletal findings seems more consistent than with ASXL1, including advanced bone age, thick calvarium, fusion of second and third cervical vertebrae, short metacarpals and distal phalanges, kyphosis, scoliosis. Postdates Bonafe survey; Review on behalf of Tracy Lester/ Andrew Wilkie
Created: 6 Mar 2019, 11:52 a.m.

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

Phenotypes
Shashi-Pena syndrome 617190

Publications

27693232

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
NHS GMS

Phenotypes

Shashi-Pena syndrome 617190

OMIM

612991

Clinvar variants

Variants in ASXL2

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: ASXL2 was added gene: ASXL2 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ASXL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ASXL2 were set to Shashi-Pena syndrome 617190

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: ASXL2