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Hyperthyroidism

Gene: ALB

Green List (high evidence)

ALB (albumin)
EnsemblGeneIds (GRCh38): ENSG00000163631
EnsemblGeneIds (GRCh37): ENSG00000163631
OMIM: 103600, Gene2Phenotype
ALB is in 2 panels

2 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

New gene added by reviewer. Promoted to green status. There are >3 unrelated cases of patients with familial dysalbuminemic hyperthyroxinemia. Most common variants in patients are R218H/R218P/R218S or R222I, which are in exon 7. These variants have an increased affinity for T4. This results in laboratory findings of elevated total T4 and elevated or normal free T4, with normal TSH, although patients are clinically euthyroid. The diagnosis of familial dysalbuminemic hyperthyroxinemia has important implications for clinical management, as it prevents inappropriate treatment for hyperthyroidism.
Created: 11 Jul 2019, 12:43 p.m. | Last Modified: 11 Jul 2019, 12:43 p.m.
Panel Version: 1.8

Publications

krishna chatterjee (Institute of Metabolic Science, University of Cambridge)

Green List (high evidence)

Phenotypes
Familial dysalbuminaemic hyperthyroxinaemia

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Familial dysalbuminaemic hyperthyroxinaemia
  • [Dysalbuminemic hyperthyroxinemia], 615999
OMIM
103600
Clinvar variants
Variants in ALB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Jul 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

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