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| Limb disorders v5.2 | ISCA-37467-Gain | Arina Puzriakova edited their review of Region: ISCA-37467-Gain: Added comment: The rating of this region has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v5.2 | ISCA-37467-Gain | Arina Puzriakova Tag Q3_23_promote_green was removed from Region: ISCA-37467-Gain. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v5.2 | ISCA-37467-Gain |
Arina Puzriakova Haploinsufficiency Score for ISCA-37467-Gain was changed from None to . Source Expert Review Green was added to Region: ISCA-37467-Gain. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Limb disorders v4.7 | ISCA-37467-Gain | Arina Puzriakova changed review comment from: Comment on list classification: Adding to this panel under the suggestion of Helen Brittain (Genomics England Clinical Team) as this region is associated with limb malformation phenotypes. Enough evidence to rate this gene as Green at the next GMS panel update.; to: Comment on list classification: Adding to this panel under the suggestion of Helen Brittain (Genomics England Clinical Team) as this region is associated with limb malformation phenotypes. Enough evidence to rate as Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v4.7 | ISCA-37467-Gain | Arina Puzriakova Tag Q3_23_promote_green tag was added to Region: ISCA-37467-Gain. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v4.7 | ISCA-37467-Gain | Arina Puzriakova Classified Region: ISCA-37467-Gain as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v4.7 | ISCA-37467-Gain | Arina Puzriakova Added comment: Comment on list classification: Adding to this panel under the suggestion of Helen Brittain (Genomics England Clinical Team) as this region is associated with limb malformation phenotypes. Enough evidence to rate this gene as Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v4.7 | ISCA-37467-Gain | Arina Puzriakova Region: isca-37467-gain has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v4.6 | ISCA-37467-Gain | Arina Puzriakova Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v4.6 | ISCA-37467-Gain | Arina Puzriakova Entity copied from Clefting v4.78 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v4.6 | ISCA-37467-Gain |
Arina Puzriakova Region: ISCA-37467-Gain was added Region: ISCA-37467-Gain was added to Limb disorders. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37467-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37467-Gain were set to 19291772; 18417549; 18178630 Phenotypes for Region: ISCA-37467-Gain were set to human triphalangeal thumb and polysyndactyly (TPT-PS) phenotype; 174500; Triphalangeal thumbpolysyndactyly syndrome; syndactyly type IV with tibial hypoplasia |
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