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| Limb disorders v2.83 | GNAS | Sarah Leigh Phenotypes for gene: GNAS were changed from ACTH-independent macronodular adrenal hyperplasia 219080 IC; McCune-Albright syndrome, somatic, mosaic 174800; Osseous heteroplasia, progressive 166350; Pseudohypoparathyroidism Ia 103580; Pseudohypoparathyroidism Ib 603233; Pseudohypoparathyroidism Ic 612462; Pseudopseudohypoparathyroidism 612463 to Pseudohypoparathyroidism Ia, OMIM:103580; pseudohypoparathyroidism type 1A, MONDO:0007078; Pseudohypoparathyroidism Ib, OMIM:603233; pseudohypoparathyroidism type 1B, MONDO:0011301; Pseudohypoparathyroidism Ic, OMIM:612462; pseudohypoparathyroidism type 1C, MONDO:0012911; McCune-Albright syndrome, somatic, mosaic, OMIM:174800; panostotic fibrous dysplasia, MONDO:0043168; Osseous heteroplasia, progressive, OMIM:166350; ACTH-independent macronodular adrenal hyperplasia. OMIM:219080; ACTH-independent macronodular adrenal hyperplasia 1, MONDO:0020735; Pseudopseudohypoparathyroidism, OMIM:612463; pseudopseudohypoparathyroidism, MONDO:0012912 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.59 | ISCA-37394-Loss |
Eleanor Williams Region: ISCA-37394-Loss was added Region: ISCA-37394-Loss was added to Limb disorders. Sources: ClinGen Mode of inheritance for Region: ISCA-37394-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for Region: ISCA-37394-Loss were set to 2q37 deletion syndrome is a condition that can affect many parts of the body. This condition is characterized by weak muscle tone (hypotonia) in infancy, mild to severe intellectual disability and developmental delay, behavioral problems, characteristic facial features, and other physical abnormalities. PMID 23188045 brachydactyly-mental retardation syndrome, Albright hereditary osteodystrophy-like syndrome, developmental delay and behavioural abnormalities in combination; 600430 Review for Region: ISCA-37394-Loss was set to GREEN Added comment: Adding this CNV as is associated with brachydactyly. The CNV is also on the skeletal dsyplasia panel Sources: ClinGen |
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| Limb disorders v1.57 | LBR | Eleanor Williams Added comment: Comment on mode of inheritance: Appears to be Biallelic in Greenberg dysplasia and in Pelger-Huet anomaly with skeletal anomalies. (Pelger-Huet anomaly without skeletal involvement can be monoallelic) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.57 | LBR | Eleanor Williams Mode of inheritance for gene: LBR was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v0.338 | LBR | Eleanor Williams Publications for gene: LBR were set to 18382993; 12618959; 21327084; 12118250 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v0.337 | LBR | Eleanor Williams commented on gene: LBR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v0.272 | LBR | Eleanor Williams Marked gene: LBR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v0.272 | LBR | Eleanor Williams Gene: lbr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v0.272 | LBR |
Eleanor Williams Source Expert Review Green was added to LBR. Mode of inheritance for gene LBR was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes mesomelia; Greenberg skeletal dysplasia, 215140; rhizomelia; post-axial polydactyly; Polydactyly for gene: LBR Publications for gene LBR were changed from to 18382993; 12618959; 21327084; 12118250 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Limb disorders v0.270 | LBR | Rebecca Foulger reviewed gene: LBR: Rating: GREEN; Mode of pathogenicity: ; Publications: 12618959, 12118250, 18382993, 21327084; Phenotypes: Polydactyly, Greenberg skeletal dysplasia, 215140, rhizomelia, mesomelia, post-axial polydactyly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders | LBR | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||