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  3. ALB
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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 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mono-allelic disease and dysalbuminemic hyperthyroxinemia: gain-of-function mechanism, missense variants of ALB with increased affinity for thyroid hormones.
Bi-allelic variants and analbuminemia: loss of function is the postulated mechanism.
Created: 26 Sep 2020, 1:30 a.m. | Last Modified: 26 Sep 2020, 1:30 a.m.
Panel Version: 0.3

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Familial dysalbuminaemic hyperthyroxinaemia; [Dysalbuminemic hyperthyroxinemia], 615999

Created: 26 Sep 2020, 1:30 a.m.
Last Modified: 26 Sep 2020, 1:30 a.m.
Panel version: 0.3

Anna Le Fevre (Victorian Clinical Genetics Services)

Green List (high evidence)

Gain of function mechanism.
Specific variants in ALB cause increased binding affinity for thyroid hormones. Immunoassay methods may show variably elevated free thyroid hormone levels. Individuals are euthyroid and identification is important to avoid unnecessary medical or surgical treatment.

Allelic conditions:
#616000 ANALBUMINEMIA; ANALBA
Biallelic loss of function variants cause very low amounts of circulating serum albumin.
Created: 26 Sep 2020, 1:30 a.m. | Last Modified: 26 Sep 2020, 1:30 a.m.
Panel Version: 0.3

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
HYPERTHYROXINEMIA, FAMILIAL DYSALBUMINEMIC; FDAH (OMIM#615999)

Publications

Mode of pathogenicity
Other

Created: 25 Sep 2020, 2:24 a.m.
Last Modified: 26 Sep 2020, 12:38 a.m.
Panel version: 0.3

Details

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

History Filter Activity

25 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: alb has been classified as Green List (High Evidence).

25 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

25 Sep 2020, Gel status: 3

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: ALB was changed from to Other

21 Sep 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ALB was added gene: ALB was added to Hyperthyroidism. Sources: Genomics England PanelApp,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; 24646103; 8064810; 27834068 Phenotypes for gene: ALB were set to Familial dysalbuminaemic hyperthyroxinaemia; [Dysalbuminemic hyperthyroxinemia], 615999