Skeletal dysplasia
Gene: AFF3
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
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
Comment on list classification: Tier 1 gene for skeletal dysplasia (Ana Beleza). No published evidence for association with Skeletal dysplasiaCreated: 8 Jul 2016, 1:43 p.m.
Tier 1Created: 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
Tag Q2_22_rating was removed from gene: AFF3.
Source Expert Review Green was added to AFF3. Source NHS GMS was added to AFF3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: aff3 has been classified as Amber List (Moderate Evidence).
Tag Q2_22_rating tag was added to gene: AFF3.
Publications for gene: AFF3 were set to
Mode of inheritance for gene: AFF3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: AFF3 were changed from No OMIM or G2P phenotype to KINSSHIP syndrome, OMIM:619297
Promoted to version 1 9th August 2016
This gene has been classified as Red List (Low Evidence).
AFF3 was created by sleigh
AFF3 was added to Unexplained skeletal dysplasiapanel. Sources: