Skeletal dysplasia

Gene: ASXL2

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, 11:44 a.m.

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

Phenotypes
Shashi-Pena syndrome 617190

Publications

• 27693232

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: ASXL2; Initial rating suggestion: green

Created: 6 Mar 2019, 11:36 a.m.

Green List (high evidence)

Associated with phenotype in OMIM and as a probable G2P. At least 6 variants reported in at least 6 unrelated cases.

Created: 19 Dec 2017, 5:01 p.m.

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

Phenotypes
Shashi-Pena syndrome 617190

Publications

• 27693232