1. Panels
  2. Anophthalmia or microphthalmia
  3. GDF3
STRs in panel
Prev Next
Regions in panel
Prev Next

Anophthalmia or microphthalmia

Gene: GDF3

Red List (low evidence)
GDF3 (growth differentiation factor 3)
EnsemblGeneIds (GRCh38): ENSG00000184344
EnsemblGeneIds (GRCh37): ENSG00000184344
OMIM: 606522, Gene2Phenotype
GDF3 is in 6 panels

1 review

David FitzPatrick (University of Edinburgh)

Red List (low evidence)

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

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Klippel-Feil syndrome 3, autosomal dominant, 613702
OMIM
606522
Clinvar variants
Variants in GDF3
Penetrance
Complete
Panels with this gene

History Filter Activity

17 Jun 2024, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: GDF3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

GDF3 was added to Anophthalmia/microphthalmiapanel. Sources: Radboud University Medical Center, Nijmegen