Skeletal dysplasia

Gene: AFF3

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.

Created: 30 Jan 2023, 2:18 p.m. | Last Modified: 30 Jan 2023, 2:35 p.m.

Panel Version: 3.5

Green List (high evidence)

Comment on list classification: Upgrading from Red to Amber but there is sufficient evidence to promote this gene to Green at the next GMS panel update.

Created: 11 Apr 2022, 2:15 p.m. | Last Modified: 11 Apr 2022, 2:15 p.m.

Panel Version: 2.194

At least 18 individuals have been reported with either a de novo missense variant or a 500 kb microdeletion within the AFF3 locus. Of these, 12 patients presented with mesomelic dysplasia resembling Nievergelt/Savarirayan mesomelic skeletal dysplasia. Other features commonly observed include severe developmental epileptic encephalopathy, failure to thrive, microcephaly, brain atrophy, abnormalities of the urinary system, gastrointestinal symptoms, and hypertrichosis.

Created: 11 Apr 2022, 2:14 p.m. | Last Modified: 11 Apr 2022, 2:14 p.m.

Panel Version: 2.193

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

Phenotypes
KINSSHIP syndrome, OMIM:619297

Publications

• 18616733
• 31388108
• 33961779

Comment on list classification: Tier 1 gene for skeletal dysplasia (Ana Beleza). No published evidence for association with Skeletal dysplasia

Created: 8 Jul 2016, 1:43 p.m.

Green List (high evidence)

Tier 1

Created: 15 Jun 2016, 2:01 p.m.

Mode of inheritance
Unknown

Phenotypes
Mesomelic dysplasia with absent fibulae and triangular tibiae (Nievergelt type) 163400

Variants in this GENE are reported as part of current diagnostic practice