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Mandibulofacial Acrofacial dysostosis v0.103 RPL11 Zornitza Stark Classified gene: RPL11 as Amber List (moderate evidence)
Mandibulofacial Acrofacial dysostosis v0.103 RPL11 Zornitza Stark Gene: rpl11 has been classified as Amber List (Moderate Evidence).
Mandibulofacial Acrofacial dysostosis v0.102 RPL11 Zornitza Stark changed review comment from: Well established gene-disease association. Craniofacial and limb abnormalities are common.; to: Well established gene-disease association. Craniofacial and limb abnormalities are common, though not classically a facial dysostosis syndrome, included as Amber due to possible phenotypic overlap.
Mandibulofacial Acrofacial dysostosis v0.102 RPL11 Zornitza Stark edited their review of gene: RPL11: Changed rating: AMBER
Mandibulofacial Acrofacial dysostosis v0.71 RPL11 Zornitza Stark Marked gene: RPL11 as ready
Mandibulofacial Acrofacial dysostosis v0.71 RPL11 Zornitza Stark Gene: rpl11 has been classified as Green List (High Evidence).
Mandibulofacial Acrofacial dysostosis v0.71 RPL11 Zornitza Stark Phenotypes for gene: RPL11 were changed from to Diamond-Blackfan anemia 7, MIM# 612562; MONDO:0012938
Mandibulofacial Acrofacial dysostosis v0.70 RPL11 Zornitza Stark Publications for gene: RPL11 were set to
Mandibulofacial Acrofacial dysostosis v0.69 RPL11 Zornitza Stark Mode of inheritance for gene: RPL11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mandibulofacial Acrofacial dysostosis v0.68 RPL11 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Craniofacial and limb abnormalities are common.
Mandibulofacial Acrofacial dysostosis v0.0 RPL11 Zornitza Stark gene: RPL11 was added
gene: RPL11 was added to Mandibulofacial Acrofacial dysostosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPL11 was set to Unknown