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| Likely inborn error of metabolism - targeted testing not possible v2.263 | EXT1 | Arina Puzriakova commented on gene: EXT1: The recent MOI update on this panel was done following an audit of genes with different MOIs on component panels of the same superpanel. These were reviewed by the curation team accounting for respective panel scope and final MOIs were validated by the Genomics England clinical team. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.225 | EXT1 | Arina Puzriakova commented on gene: EXT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.224 | EXT1 | Arina Puzriakova Mode of inheritance for gene EXT1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.47 | EXT1 |
Ivone Leong Source NHS GMS was added to EXT1. Source London North GLH was added to EXT1. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | EXT1 |
Ellen McDonagh Added phenotypes Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies); Exostoses, multiple, type 1 133700 for gene: EXT1 Publications for gene EXT1 were changed from 12417417 to 27604308 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | EXT1 |
Ellen McDonagh gene: EXT1 was added gene: EXT1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: EXT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXT1 were set to 12417417 Phenotypes for gene: EXT1 were set to Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies); Exostoses, multiple, type 1 133700 |
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