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Skeletal dysplasia v7.23 LFNG Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: LFNG.
Skeletal dysplasia v7.23 LFNG Achchuthan Shanmugasundram commented on gene: LFNG: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Skeletal dysplasia v7.22 LFNG Achchuthan Shanmugasundram Source Expert Review Green was added to LFNG.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v6.21 LFNG Achchuthan Shanmugasundram Deleted their comment
Skeletal dysplasia v6.21 LFNG Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in both OMIM (MIM #609813) and Gene2Phenotype (with 'definitive' rating on DD and Skeletal panels).
Skeletal dysplasia v6.21 LFNG Achchuthan Shanmugasundram Phenotypes for gene: LFNG were changed from Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813 to Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813
Skeletal dysplasia v6.21 LFNG Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in both OMIM (MIM #609813) and Gene2Phenotype (with 'definitive' rating on DD and Skeletal panels).
Skeletal dysplasia v6.21 LFNG Achchuthan Shanmugasundram Phenotypes for gene: LFNG were changed from Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813 to Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813
Skeletal dysplasia v6.20 LFNG Achchuthan Shanmugasundram Classified gene: LFNG as Amber List (moderate evidence)
Skeletal dysplasia v6.20 LFNG Achchuthan Shanmugasundram Added comment: Comment on list classification: There are more than 10 unrelated cases reported with Spondylocostal dysostosis and with biallelic LFNG variants (either homozygous or compound heterozygous). Hence, this gene can be promoted to green rating in the next GMS update.
Skeletal dysplasia v6.20 LFNG Achchuthan Shanmugasundram Gene: lfng has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v6.19 LFNG Achchuthan Shanmugasundram Publications for gene: LFNG were set to 16385447; 29459493; 30196550; 30531807; 33728697; 34645488; 37038048; 38565611
Skeletal dysplasia v6.19 LFNG Achchuthan Shanmugasundram Publications for gene: LFNG were set to 16385447; 29459493; 30196550; 30531807; 33728697; 37038048; 38565611
Skeletal dysplasia v6.18 LFNG Achchuthan Shanmugasundram edited their review of gene: LFNG: Changed publications to: 16385447, 29459493, 30196550, 30531807, 33728697, 34645488, 37038048, 38565611
Skeletal dysplasia v6.18 LFNG Achchuthan Shanmugasundram Phenotypes for gene: LFNG were changed from Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813 to Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813
Skeletal dysplasia v6.18 LFNG Achchuthan Shanmugasundram Phenotypes for gene: LFNG were changed from Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813 to Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813
Skeletal dysplasia v6.18 LFNG Achchuthan Shanmugasundram Phenotypes for gene: LFNG were changed from Spondylocostal dysostosis 3, autosomal recessive 609813 to Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813
Skeletal dysplasia v6.17 LFNG Achchuthan Shanmugasundram Publications for gene: LFNG were set to 16385447; 29459493; 30196550; 30531807; 33728697; 37038048; 38565611
Skeletal dysplasia v6.17 LFNG Achchuthan Shanmugasundram Publications for gene: LFNG were set to 30196550; 16385447
Skeletal dysplasia v6.16 LFNG Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: LFNG.
Skeletal dysplasia v6.16 LFNG Achchuthan Shanmugasundram reviewed gene: LFNG: Rating: GREEN; Mode of pathogenicity: None; Publications: 16385447, 29459493, 30196550, 30531807, 33728697, 37038048, 38565611; Phenotypes: Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.153 LFNG Eleanor Williams Added phenotypes Spondylocostal dysostosis 3, autosomal recessive 609813 for gene: LFNG
Publications for gene LFNG were changed from to 30196550; 16385447
Skeletal dysplasia v1.147 LFNG Tracy Lester reviewed gene: LFNG: Rating: AMBER; Mode of pathogenicity: ; Publications: 16385447, 30196550; Phenotypes: Spondylocostal dysostosis 3, autosomal recessive 609813; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.146 LFNG Eleanor Williams reviewed gene: LFNG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.145 LFNG Eleanor Williams Source NHS GMS was added to LFNG.