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| Fetal anomalies v8.26 | HMGCS1 | Ida Ertmanska commented on gene: HMGCS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v8.25 | HMGCS1 | Sarah Graham reviewed gene: HMGCS1: Rating: AMBER; Mode of pathogenicity: ; Publications: 39531736; Phenotypes: congenital myopathy 28 with rigid spine, MONDO:0980756, Congenital myopathy 28 with rigid spine, OMIM:621433, Congenital myopathy 28 with rigid spine; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v8.23 | HMGCS1 |
Ida Ertmanska gene: HMGCS1 was added gene: HMGCS1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: HMGCS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HMGCS1 were set to 39531736 Phenotypes for gene: HMGCS1 were set to congenital myopathy 28 with rigid spine, MONDO:0980756; Congenital myopathy 28 with rigid spine, OMIM:621433; Congenital myopathy 28 with rigid spine |
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