Genomics England
GMS Panels
Panels
Genes and Entities

GDF6

growth differentiation factor 6
OMIM: 601147
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.6
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
KLIPPEL-FEIL SYNDROME TYPE 1 118100, MICROPHTHALMIA ISOLATED TYPE 4 613094
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
MICROPHTHALMIA ISOLATED TYPE 4, KLIPPEL-FEIL SYNDROME TYPE 1, Syndromic CAKUT
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Klippel-Feil syndrome 1, autosomal dominant 118100, Multiple synostoses syndrome type 4 - 617898.
Green
in Structural eye disease
R-numbers: R36
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Microphthalmia, isolated 4, 613094, KLIPPEL-FEIL SYNDROME 1(includes microphthalmia), 118100, Microphthalmia with coloboma 6, digenic (with GDF3), 613703, Klippel-Feil syndrome 1, autosomal dominant, 118100