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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 3 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

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.
Created: 7 Feb 2022, 3:12 p.m. | Last Modified: 7 Feb 2022, 3:12 p.m.
Panel Version: 2.10
Created: 7 Feb 2022, 3:12 p.m.
Last Modified: 7 Feb 2022, 3:12 p.m.
Panel version: 2.10

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

Created: 11 Jul 2019, 12:43 p.m.
Last Modified: 11 Jul 2019, 12:43 p.m.
Panel version: 1.8

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

Green List (high evidence)

Phenotypes
Familial dysalbuminaemic hyperthyroxinaemia

Created: 11 Jul 2019, 12:43 p.m.
Last Modified: 11 Jul 2019, 12:43 p.m.
Panel version: 1.8

Details

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

History Filter Activity

7 Feb 2022, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: ALB were set to 29163366; 8064810; 24646103; 27834068

7 Feb 2022, Gel status: 3

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: ALB was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

7 Feb 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

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