GDF6

growth differentiation factor 6
OMIM: 601147, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Red GDF6 in Currarino triad Version 1.2	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Other Phenotypes Klippel-Feil syndrome 1, autosomal dominant sacral agenesis
Red GDF6 in Familial Neural Tube Defects Version 1.11	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Klippel-Feil syndrome Klippel-Feil Syndrome
Amber GDF6 in Deafness and congenital structural abnormalities Level 3: Deafness and congenital structural abnormalities Level 2: Hearing and ear disorders Version 1.37	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Expert list Phenotypes Bilateral Microtia Klippel-Feil syndrome 1, autosomal dominant 118100
Red GDF6 in Ocular coloboma Level 3: Ocular malformations Level 2: Ophthalmological disorders Version 1.51	review	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Klippel-Feil syndrome 1, autosomal dominant, 118100
Green GDF6 in Skeletal dysplasia Level 2: Musculoskeletal Version 8.34 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen Expert list Illumina TruGenome Clinical Sequencing Services Phenotypes Klippel-Feil syndrome 1, autosomal dominant 118100 Multiple synostoses syndrome type 4 - 617898.
Green GDF6 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes MICROPHTHALMIA ISOLATED TYPE 4 KLIPPEL-FEIL SYNDROME TYPE 1 Syndromic CAKUT
Green GDF6 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes KLIPPEL-FEIL SYNDROME TYPE 1 118100 MICROPHTHALMIA ISOLATED TYPE 4 613094
Red GDF6 in Anophthalmia or microphthalmia Level 3: Ocular malformations Level 2: Ophthalmological disorders Version 1.56	review	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Klippel-Feil syndrome 1, autosomal dominant, 118100
Red GDF6 in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Klippel-Feil syndrome 1, autosomal dominant, 118100 Microphthalmia, isolated 4, 613094 Microphthalmia with coloboma 6, digenic, 613703 Leber congenital amaurosis 17, 615360
Amber GDF6 in Retinal disorders Level 2: Ophthalmology Version 8.86 Latest signed off version: v8.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Klippel-Feil syndrome 1, autosomal dominant, 118100 Leber congenital amaurosis 17, 615360 Microphthalmia with coloboma 6, digenic, 613703 Microphthalmia, isolated 4, 613094 Tags watchlist
Green GDF6 in Structural eye disease Level 2: Ophthalmology Version 4.37 Latest signed off version: v4.0 (7 Aug 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS 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