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| Skeletal dysplasia v2.190 | ISCA-37394-Loss | Ivone Leong commented on Region: ISCA-37394-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.190 | ISCA-37394-Loss | Arina Puzriakova Required Overlap Percentage for ISCA-37394-Loss was changed from 80 to 60. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.22 | ISCA-37394-Loss | Sarah Leigh Publications for Region: ISCA-37394-Loss were set to 25402011; 23188045 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.203 | HDAC4 |
Eleanor Williams changed review comment from: Comment on list classification: After review with members of the GMS Musculoskeletal specialist test group and Genomics England Clinicians it was decided to rate the HDAC4 gene amber for SNVs, but to keep the region ISCA-37394-Loss (2q37.3 terminal region (includes HDAC4) Loss) green.; to: Comment on list classification: After review with members of the GMS Musculoskeletal specialist test group and Genomics England Clinicians it was decided to rate the HDAC4 gene amber for SNVs, but to keep the region covering this gene green (ISCA-37394-Loss (2q37.3 terminal region (includes HDAC4) Loss)) |
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| Skeletal dysplasia v1.203 | HDAC4 |
Eleanor Williams Added comment: Comment on list classification: After review with members of the GMS Musculoskeletal specialist test group and Genomics England Clinicians it was decided to rate the HDAC4 gene amber for SNVs, but to keep the region ISCA-37394-Loss (2q37.3 terminal region (includes HDAC4) Loss) green. |
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| Skeletal dysplasia v1.148 | ISCA-37394-Loss | Eleanor Williams Source NHS GMS was added to Region: ISCA-37394-Loss. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.147 | ISCA-37394-Loss | Eleanor Williams commented on Region: ISCA-37394-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.105 | ISCA-37394-Loss |
Louise Daugherty Region: ISCA-37394-Loss was added Region: ISCA-37394-Loss was added to Unexplained skeletal dysplasia. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37394-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37394-Loss were set to 25402011; 23188045 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 |
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