GDF6

growth differentiation factor 6
OMIM: 601147, ClinGen, DECIPHER

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green GDF6 in Congenital anomalies of the kidney and urinary tract (CAKUT) Level 2: Renal and urinary tract disorders Version 1.0	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Syndromic CAKUT
Green GDF6 in Mendeliome Version 2.0	4 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple synostoses syndrome 4 MIM#617898 Klippel-Feil syndrome 1, autosomal dominant MIM#118100 Leber congenital amaurosis 17 MIM615360 Microphthalmia, isolated 4 MIM#613094
Green GDF6 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.0	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Expert Review Green Radboud University Medical Center, Nijmegen NHS GMS Expert list Victorian Clinical Genetics Services Phenotypes Klippel-Feil syndrome 1, autosomal dominant 118100 Multiple synostoses syndrome type 4 - 617898.
Amber GDF6 in Retinitis pigmentosa Level 2: Ophthalmological disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Leber congenital amaurosis 17 MIM#615360
Green GDF6 in Hand and foot malformations Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple synostoses syndrome type 4 - 617898. Klippel-Feil syndrome 1, autosomal dominant 118100
Red GDF6 in Congenital nystagmus Level 2: Ophthalmological disorders Version 2.0	3 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Leber congenital amaurosis 17, MIM# 615360
Green GDF6 in Fetal anomalies Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Phenotypes Multiple synostoses syndrome 4 (MIM#617898)