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  3. ALB
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Familial dysalbuminaemic hyperthyroxinaemia

Gene: ALB

Green List (high evidence)
ALB (albumin)
EnsemblGeneIds (GRCh38): ENSG00000163631
EnsemblGeneIds (GRCh37): ENSG00000163631
OMIM: 103600, Gene2Phenotype
ALB is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #615999) and the OMIM record was last accessed on 18 December 2025.
Created: 18 Dec 2025, 10:47 a.m. | Last Modified: 18 Dec 2025, 10:47 a.m.
Panel Version: 1.2
ALB has been added to the panel for R329 AFamilial dysalbuminaemic hyperthyroxinaemia with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 30 Jun 2023, 1:10 p.m. | Last Modified: 30 Jun 2023, 1:10 p.m.
Panel Version: 0.1

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

Created: 30 Jun 2023, 1:10 p.m.
Last Modified: 30 Jun 2023, 1:10 p.m.
Panel version: 0.1

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • [Dysalbuminemic hyperthyroxinemia], OMIM:615999
  • hyperthyroxinemia, familial dysalbuminemic, MONDO:0014448
OMIM
103600
Clinvar variants
Variants in ALB
Penetrance
None
Panels with this gene

History Filter Activity

18 Dec 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: ALB were changed from to [Dysalbuminemic hyperthyroxinemia], OMIM:615999; hyperthyroxinemia, familial dysalbuminemic, MONDO:0014448

29 Jun 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

gene: ALB was added gene: ALB was added to Familial dysalbuminaemic hyperthyroxinaemia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ALB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown