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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
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

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
Phenotypes
  • No OMIM or G2P phenotype
OMIM
601464
Clinvar variants
Variants in AFF3
Penetrance
Complete
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

Created

Sarah Leigh (Genomics England Curator)

AFF3 was created by sleigh