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| Congenital hypothyroidism v2.10 | ISCA-37478-Loss | Ivone Leong commented on Region: ISCA-37478-Loss: The required percent of overlap for this region has been changed from 80% to 60% and the genomic location has been updated inline with ClinGen following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v2.10 | ISCA-37478-Loss |
Arina Puzriakova GRCh38 position for ISCA-37478-Loss was changed from 23513243-28312040 to 23465365-28134728. Required Overlap Percentage for ISCA-37478-Loss was changed from 80 to 60. |
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| Congenital hypothyroidism v1.22 | ISCA-37478-Loss | Ivone Leong Classified Region: ISCA-37478-Loss as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v1.22 | ISCA-37478-Loss | Ivone Leong Added comment: Comment on list classification: Demoted from green to amber as adviced by Nadia Schoenmakers (East of England GLH). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v1.22 | ISCA-37478-Loss | Ivone Leong Region: isca-37478-loss has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v1.2 | ISCA-37478-Loss |
Louise Daugherty Region: ISCA-37478-Loss was added Region: ISCA-37478-Loss was added to Congenital hypothyroidism or thyroid agenesis. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37478-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37478-Loss were set to 22045295; 7611294 Phenotypes for Region: ISCA-37478-Loss were set to microcephaly; Developmental delay, muscle weakness; Mental retardation; Angelman syndrome; 176270; Prader-Willi syndrome; 105830 |
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