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| Likely inborn error of metabolism - targeted testing not possible v2.246 | HSPD1 | Arina Puzriakova Phenotypes for gene: HSPD1 were changed from Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Leukodystrophy, hypomyelinating, 4, 612233; Spastic paraplegia 13, autosomal dominant, 605280 to Leukodystrophy, hypomyelinating, 4, OMIM:612233 (AR); Spastic paraplegia 13, autosomal dominant, OMIM:605280 (AD) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.47 | HSPD1 |
Ivone Leong Source NHS GMS was added to HSPD1. Source London North GLH was added to HSPD1. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | HSPD1 |
Ellen McDonagh Added phenotypes Leukodystrophy, hypomyelinating, 4, 612233; Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Spastic paraplegia 13, autosomal dominant, 605280 for gene: HSPD1 Publications for gene HSPD1 were changed from to 27604308 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | HSPD1 |
Ellen McDonagh gene: HSPD1 was added gene: HSPD1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HSPD1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: HSPD1 were set to Leukodystrophy, hypomyelinating, 4, 612233; Spastic paraplegia 13, autosomal dominant, 605280 |
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