| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v2.119 | ACAA2 | chirag patel Marked gene: ACAA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.119 | ACAA2 | chirag patel Gene: acaa2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.119 | ACAA2 | chirag patel Classified gene: ACAA2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.119 | ACAA2 | chirag patel Gene: acaa2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.118 | ACAA2 |
chirag patel gene: ACAA2 was added gene: ACAA2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: ACAA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACAA2 were set to 41186989 Phenotypes for gene: ACAA2 were set to Lipodystrophy, MONDO:0006573 Mode of pathogenicity for gene: ACAA2 was set to Other Review for gene: ACAA2 was set to AMBER Added comment: 8 individuals from 4 unrelated families with the same heterozygous variant in ACAA2 gene (c.688G>A, (p.Glu230Lys)). Individuals presented with partial lipodystrophy, cervical lipomatosis, infantile steatohepatitis and hypoglycaemia. The variant is absent in gnomAD, affects a high conserved amino acid, and segregated with affected individuals (de novo in 1 family, inherited in 2 families). Functional data was limited to structural modelling and plasma acylcarnitine profiling that suggests a gain‑of‑function effect. The ACAA2 gene encodes for a mitochondrial fatty acid β-oxidation (mFAO) enzyme. Sources: Literature |
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