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| Mendeliome v1.4850 | CHCHD4 | Zornitza Stark Marked gene: CHCHD4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4850 | CHCHD4 | Zornitza Stark Gene: chchd4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4850 | CHCHD4 | Zornitza Stark Phenotypes for gene: CHCHD4 were changed from IUGR; lactic acidosis; liver disease; hypoglycaemia; dystonia; hypertonia; regression to Mitochondrial disease, MONDO:0044970, CHCHD4-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4849 | CHCHD4 | Zornitza Stark Classified gene: CHCHD4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4849 | CHCHD4 | Zornitza Stark Gene: chchd4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4848 | CHCHD4 | Zornitza Stark reviewed gene: CHCHD4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial disease, MONDO:0044970, CHCHD4-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4844 | CHCHD4 |
Isabelle Adant gene: CHCHD4 was added gene: CHCHD4 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: CHCHD4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHCHD4 were set to 41981912; 26004228 Phenotypes for gene: CHCHD4 were set to IUGR; lactic acidosis; liver disease; hypoglycaemia; dystonia; hypertonia; regression Review for gene: CHCHD4 was set to RED Added comment: 41981912 1 individual compound heterozygous for missense variant and large deletion encompassing the whole CHCHD4 gene (and adjacent gene) of biparental inheritance, presenting with IUGR, liver dysfunction, lactic acidosis and short-fasting hypoglycaemia, developmental delay and regression, hypertonia and dystonia. Early demise at 11months. Minimal supporting biochemical evidence (protein expression studies) in patient-derived fibroblasts. 26004228 : Chchd4−/− mouse model Biallelic Chchd4 in mouse embryos causes a developmental arrest coupled with embryonic lethality at the onset of gastrulation. The developmental retardation of Chchd4−/− embryos was accompanied by a major defect in the expression of respiratory chain complex I subunit CI-20. Sources: Literature |
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