| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Hyperthyroidism v2.11 | ALB | Arina Puzriakova Publications for gene: ALB were set to 29163366; 8064810; 24646103; 27834068 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v2.10 | ALB | Arina Puzriakova Added comment: Comment on mode of inheritance: Most cases of familial dysalbuminaemic hyperthyroxinaemia (FDH) are associated with heterozygous variants in the albumin gene. Only one report to date of a biallelic variant causing FDH (PMID: 29676214) where the proband displayed a greater increase in T4 relative to that observed in heterozygous family members. As there are no further biallelic FDH cases and the recessive phenotype of congenital analbuminemia (also associated with this gene) is not relevant to this panel, the MOI of 'monoallelic' inheritance will be maintained at this time. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v2.10 | ALB | Arina Puzriakova Mode of inheritance for gene: ALB was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v2.9 | ALB | Arina Puzriakova Phenotypes for gene: ALB were changed from Familial dysalbuminaemic hyperthyroxinaemia; [Dysalbuminemic hyperthyroxinemia], 615999 to Familial dysalbuminaemic hyperthyroxinaemia; [Dysalbuminemic hyperthyroxinemia], OMIM:615999; ?[Dysalbuminemic hypertriiodothyroninemia], OMIM:615999 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v1.8 | ALB | Ivone Leong reviewed gene: ALB: Rating: GREEN; Mode of pathogenicity: ; Publications: 27834068, 24646103, 8064810, 29163366; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v1.8 | ALB | krishna chatterjee reviewed gene: ALB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Familial dysalbuminaemic hyperthyroxinaemia; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v1.7 | ALB |
Ivone Leong gene: ALB was added gene: ALB was added to Hyperthyroidism. Sources: Expert list,Expert Review Green Mode of inheritance for gene: ALB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ALB were set to 29163366; 8064810; 24646103; 27834068 Phenotypes for gene: ALB were set to Familial dysalbuminaemic hyperthyroxinaemia; [Dysalbuminemic hyperthyroxinemia], 615999 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||