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| 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 Classified gene: HDAC4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v1.203 | HDAC4 | Eleanor Williams Gene: hdac4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.155 | HDAC4 |
Eleanor Williams commented on gene: HDAC4: Not associated with a phenotype in OMIM. See review of this gene on Limb disorders panel - https://panelapp.genomicsengland.co.uk/panels/384/gene/HDAC4/ Conclusion was haploinsufficiency of HDAC4 appears to be associated with Brachydactyly type E but not always intellectual disability. |
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| Skeletal dysplasia v1.153 | HDAC4 |
Eleanor Williams Added phenotypes Albright hereditary osteodystrophy type 3; Brachydactyly-intellectual disability; Albright hereditary osteodystrophy-like syndrome; Del(2)(q37) 600430 for gene: HDAC4 Publications for gene HDAC4 were changed from 20691407; 15521982; 19365831 to 19365831; 15521982; 20691407; 25402011 |
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| Skeletal dysplasia v1.147 | HDAC4 | Tracy Lester reviewed gene: HDAC4: Rating: AMBER; Mode of pathogenicity: ; Publications: 20691407, 15521982, 19365831, 25402011; Phenotypes: Albright hereditary osteodystrophy type 3, Albright hereditary osteodystrophy-like syndrome, Brachydactyly-intellectual disability, Del(2)(q37) 600430; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.146 | HDAC4 | Eleanor Williams reviewed gene: HDAC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.145 | HDAC4 |
Eleanor Williams Source NHS GMS was added to HDAC4. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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