Activity
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| Fetal anomalies v8.26 | MIPEP | Ida Ertmanska commented on gene: MIPEP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v8.25 | MIPEP | Louise Carr reviewed gene: MIPEP: Rating: AMBER; Mode of pathogenicity: ; Publications: 27799064, 34620555, 36727025; Phenotypes: lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome, MONDO:0014976, Combined oxidative phosphorylation deficiency-31, OMIM:617228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v8.23 | MIPEP |
Ida Ertmanska gene: MIPEP was added gene: MIPEP was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: MIPEP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MIPEP were set to 27799064; 34620555; 36727025 Phenotypes for gene: MIPEP were set to lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome, MONDO:0014976; Combined oxidative phosphorylation deficiency-31, OMIM:617228 |
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