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Skeletal dysplasia

Gene: AFF3

Red List (low evidence)

AFF3 (AF4/FMR2 family member 3)
EnsemblGeneIds (GRCh38): ENSG00000144218
EnsemblGeneIds (GRCh37): ENSG00000144218
OMIM: 601464, Gene2Phenotype
AFF3 is in 5 panels

2 reviews

Sarah Leigh (Genomics England Curator)

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.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 15 Jun 2016, 2:01 p.m.

Mode of inheritance

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

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


Mode of Inheritance
  • Expert Review Red
  • No OMIM or G2P phenotype
Clinvar variants
Variants in AFF3
Panels with this gene

History Filter Activity

9 Aug 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

8 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

AFF3 was added to Unexplained skeletal dysplasiapanel. Sources:

18 May 2016, Gel status: 0


Sarah Leigh (Genomics England Curator)

AFF3 was created by sleigh